Database RAG1base Version 3.3 File rag1pub.html Date 01-Mar-2019 Curator Mauno Vihinen Address Protein Structure and Bioinformatics Address Lund University, BMC D10, SE-22184 Lund, Sweden Phone +46 72 526 0022 Fax +46 46 222 9328 Email Mauno Vihinen URL http://structure.bmc.lu.se/idbase/RAG1base/ FTP ftp://protein.uta.fi/pub/rag1pub.dat IDR factfile http://structure.bmc.lu.se/idbase/xml/idr/ff/FF2.xml Gene RAG1 Disease autosomal recessive RAG1 immunodeficiency OMIM 179615 GDB 120334 Sequence IDRefSeq:D0071; IDRefSeq:C0071; UniProt:P15918 Numbering start of the entry Funding Tampere University Hospital Medical Research Fund Funding European Union Comments sequence entry reference in every entry Comments An other related database: RAG2base // ID #P85-1(1),R716W(1); standard; MUTATION; SRP1, Accession R0065 Systematic name Allele 1: g.6546_6548delCTA, c.254_256delCTA, Systematic name r.254_256delcua, p.Pro85del Systematic name Allele 2: g.8438C>T, c.2146C>T, r.2146c>u, p.Arg716Trp Original code P46 Description Allele 1: An inframe deletion in the exon 2 leading to an Description amino acid change in the SRP1 domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change in the SRP1 domain Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6546..6548 Feature /change: -cta Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: inframe deletion Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 366..368 Feature aa; 3 Feature /rnalink: 2 Feature /name: deletion; inframe Feature /loc: SWISS-PROT: RAG1_HUMAN: 85..86 Feature /change: PK -> Q Feature /domain: SRP1 FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8438 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2258 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 716 Feature /change: R -> W Diagnosis Omenn Syndrome WBC 13.7 IgA 0.07 IgG 5.12 IgM 0.18 CD3 32 CD4 30 CD4+CD45RA+ 1 CD4+CD45R0+ 99 CD8 1.2 // ID #P85-1(2),&R829(2); standard; MUTATION; SRP1,BIV Accession R0080 Systematic name Allele 1: g.6546_6548delCTA, c.254_256delCTA, Systematic name r.254_256delcua, p.Pro85del Description Allele 2: A complex mutation in the exon 2 leading to Description an amino acid change in the BIV domain Original code P65 Description Allele 1: An inframe deletion in the exon 2 leading to an Description amino acid change in the SRP1 domain Description Allele 2: A complex mutation in the exon 2 leading to an Description amino acid change in the SRP1 domain Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6546..6548 Feature /change: -cta Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: inframe deletion Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 366..368 Feature aa; 3 Feature /rnalink: 2 Feature /name: deletion; inframe Feature /loc: SWISS-PROT: RAG1_HUMAN: 85..86 Feature /change: PK -> Q Feature /domain: SRP1 FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: complex Feature /loc: IDRefSeq: RAG1_DNA: 8779..8780 Feature /change: ga -> tt Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: complex Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2599..2600 Feature aa; 6 Feature /rnalink: 5 Feature /name: complex Feature /loc: SWISS-PROT: RAG1_HUMAN: 829..830 Feature /change: RK -> SX Feature /domain: BIV Diagnosis Omenn Syndrome // ID #K86X118(1),#K86X118(1); standard; MUTATION; Accession R0019 Systematic name Allele 1 and 2: g.368_369delAA, c.368_369delAA, p.K86fsX118 Original code OS8 Description Allele 1 and 2; frameshift deletion leading to stop codon Description and premature termination Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Symptoms Omenn syndrome // ID #K86X118(2),D429G(1); standard; MUTATION; Accession R0007 Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118 Systematic name Allele 2: g.1398A>G, c.1398A>G, p.D429G Original code OS5 ref [1,3]; P1 ref [2]; P21 ref [4] Description Allele 1; frameshift deletion leading to absent protein Description Allele 2; missense mutation leading to amino acid change Description in homeodomain, homodimerization Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [2] RefCrossRef PUBMED; 10701853 RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth, RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P. RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome RefLoc Prenat. Diagn. 20:56-59 (2000) RefNumber [3] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) RefNumber [3] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0013 DB CrossRef OMIM; 179615.0009 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1398 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1398 Feature /codon: gat -> ggt; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 429 Feature /change: D -> G Diagnosis Leaky severe combined immunodeficiency Symptoms Failure to thrive; Erythrodermia; Skin rash; Protracted Symptoms diarrhea Age at onset 1.5 months WBC 10.6 Total lymphoc 0.6 Eosin 1.36 IgA <0.06 IgE 500 kU/I IgG 3.5 IgM <0.1 CD3 16 CD4 11 CD45RA <5 CD45R0 >90 CD8 10 CD16 57 CD19/CD20 <1 DR 25 PHA 3 MFT - // ID #K86X118(3),R624C(1); standard; MUTATION; Accession R0036 Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118 Systematic name Allele 2: g.1982C>T, c.1982C>T, p.R624C Original code OS9 ref [1]; P39 ref [2] Description Allele 1; frameshift deletion in the exon 2 leading to Description stop codon and premature termination Description Allele 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1982 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1982 Feature /codon: cgt -> tgt; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 624 Feature /change: R -> C Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1 month WBC 24.2 Total lymphoc 15.0 Eosin 3.0 IgA 0.10 IgE 2000 kU/I IgG 0.60 IgM 0.13 CD3 80 CD4 50 CD45RA 21 CD45R0 79 CD8 18 CD16 5 CD19/CD20 0.9 DR 35 PHA 2.6 MFT - // ID #K86X118(4),@V643X651(1); standard; MUTATION; Accession R0011 Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118 Systematic name Allele 2: g.2038_2039insCAGCTCTCAGAATGTGAAA, Systematic name c.2038_2039insCAGCTCTCAGAATGTGAAA, p.V643fsX651 Original code OS12 Description Allele 1; frameshift deletion in the exon 2 leading to Description stop codon and premature termination Description Allele 2; duplication of 19 bp leading to frameshift and premature Description termination Date 26-Feb-1999 (Rel. 1, Created) Date 26-Jul-2000 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: insertion Feature /loc: EMBL: HSRAG1: 2039 Feature /change: +cagctctcag aatgtgaaa Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 2039 Feature /note: duplication of 19 bp 2020..2038 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 643 Feature /change: V -> QLSECESIX Symptoms B cell-negative severe combined immunodeficiency // ID #K86X118(5),E722K(2); standard; MUTATION; Accession R0022 Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118 Systematic name Allele 2: g.2276G>A, c.2276G>A, p.E722K Original code P2 ref [1]; OS10 ref [2]; P38 ref [3] Description Allele 1; frameshift deletion in the exon 2 leading to Description stop codon and premature termination Description Allele 2; missense mutation in the exon 2 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10701853 RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth, RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P. RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome RefLoc Prenat. Diagn. 20:56-59 (2000) RefNumber [2] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) RefNumber [3] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2276 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276 Feature /codon: gag -> aag; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722 Feature /change: E -> K Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1.5 months WBC 10.5 Total lymphoc 2.9 Eosin 1.47 IgA 0.13 IgE 1938 kU/I IgG 0.70 IgM 0.11 CD3 49 CD4 44 CD45RA <1 CD45R0 97 CD8 12 CD16 26 CD19/CD20 3.9 DR 28 PHA < MFT n.d. // ID #K86X118(6),K830X(2); standard; MUTATION; Accession R0021 Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118 Systematic name Allele 2: g.2599_2600delGAinsTT, c.2599_2600delGAinsTT, Systematic name p.R829_K830delinsSX Original code OS11 Description Allele 1; frameshift deletion leading to stop codon and Description premature termination Description Allele 2; complex mutation leading to stop codon and Description premature termination Date 01-Mar-1999 (Rel. 1, Created) Date 21-Mar-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 368..369 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: complex Feature /change: ga -> tt Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: complex Feature /loc: EMBL: M29474; G190843; HSRAG1: 2599..2600 Feature /codon: agg -> agt; 3 Feature /codon: aaa -> taa; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: complex Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 829..830 Feature /change: RK -> SX Symptoms Omenn syndrome // ID #K86X118(7),Y333X(1); standard; MUTATION; I, Accession R0049 Systematic name Allele 1: g.6548_6549delAA, c.256_257delAA, r.256_257delaa, Systematic name p.Lys86fsX33 Systematic name Allele 2: g.7291T>A, c.999T>A, r.999u>a, p.Tyr333X Original code OM8 Description Allele 1: a frame shift deletion mutation in the exon 2 Description leading to a premature stop codon in the I domain Description Allele 2: a point mutation in the exon 2 leading to a Description premature stop codon Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7291 Feature /change: t -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1111 Feature /codon: tat -> taa; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 333 Feature /change: Y -> X Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age 4 month Sex XX Family history Inherited Total lymphoc 22400 Eosinophils nd IgE nd CD19 0 // ID #K86X118(8),#K86X118(8); standard; MUTATION; SRP1,SRP1 Accession R0062 Systematic name Allele 1 and 2: g.6548_6549delAA, c.256_257delAA, Systematic name r.256_257delaa, p.Lys86fsX33 Original code P4 Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the SRP1 domain Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16276422 RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S., RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L., RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L., RefAuthors Casanova, J. L., Fischer, A., Le Deist, F. RefTitle A novel immunodeficiency associated with hypomorphic RAG1 RefTitle mutations and CMV infection. RefLoc J Clin Invest:3291-3299 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Feature /domain: SRP1 FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Feature /domain: SRP1 Symptoms Others: Symptoms severe persistent CMV infection, anemia Age 0,5 Sex XX Ethnic origin Caucasoid; Turkey Total lymphoc 3.5 IgA 0 IgM 2.7 CD3 55 CD4 4 CD8 4 CD19 12 Comment Diagnosis: Immunodeficiency with gamma-delta-T cell Comment expansion and autoimmunity // ID #K86X118(9),#K86X118(9); standard; MUTATION; SRP1,SRP1 Accession R0084 Systematic name Allele 1 and 2: g.6548_6549delAA, c.256_257delAA, Systematic name r.256_257delaa, p.Lys86fsX33 Original code Case2 Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the SRP1 domain Date 16-Jun-2010 (Rel. 1, Created) Date 16-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19458910 RefAuthors Karaca, N. E., Aksu, G., Genel, F., Gulez, N., Can, S., RefAuthors Aydinok, Y., Aksoylar, S., Karaca, E., Altuglu, I., RefAuthors Kutukculer, N. RefTitle Diverse phenotypic and genotypic presentation of RAG1 RefTitle mutations in two cases with SCID. RefLoc Clin Exp Med:339-342 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Feature /domain: SRP1 FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549 Feature /change: -aa Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 86 Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX Feature /domain: SRP1 Symptoms Infections: Symptoms Failure to thrive; Pneumonia; Hepatomegaly; Splenomegaly; Symptoms Others: Symptoms growth retardation, autoimmune haemolytic anemia, thrombocytopenia Age 0.9 Sex XY IgA 0.53 IgG 15.50 IgM 0.76 // ID K136Q(1),C192Y(1); standard; MUTATION; Accession R0066 Systematic name Allele 1: g.6698A>C, c.406A>C, r.406a>c, p.Lys136Gln Systematic name Allele 2: g.6867G>A, c.575G>A, r.575g>a, p.Cys192Tyr Original code P49 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 6698 Feature /change: a -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 518 Feature /codon: aaa -> caa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 136 Feature /change: K -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 6867 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 687 Feature /codon: tgt -> tat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 192 Feature /change: C -> Y Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Protracted Symptoms diarrhea; Symptoms Others: Symptoms generalised oedema Age <0.1 WBC 48.7 IgA <0.0007 IgE 120 IgG 0.0045 IgM 0.0007 CD3 74 CD4 26 CD8 32 // ID R142X(1),R396H(3); standard; MUTATION; BI,INV Accession R0093 Systematic name Allele 1: g.6716C>T, c.424C>T, r.424c>u, p.Arg142X Systematic name Allele 2: g.7479G>A, c.1187G>A, r.1187g>a, p.Arg396His Original code Case5 Description Allele 1: A point mutation in the exon 2 leading to a Description premature stop codon in the BI domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change in the INV domain Date 04-Aug-2010 (Rel. 1, Created) Date 04-Aug-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17075247 RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y., RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A. RefTitle Omenn syndrome--review of several phenotypes of omenn RefTitle syndrome and RAG1/RAG2 mutations in japan. RefLoc Allergol Int:115-119 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 6716 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 536 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 142 Feature /change: R -> X Feature /domain: BI FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7479 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 396 Feature /change: R -> H Feature /domain: INV Diagnosis Omenn Syndrome Symptoms Others: Symptoms Poor growth weight; Respiratory distress; Age 10 mo Ethnic origin Japan // ID #T173X200(1),#T173X200(1); standard; MUTATION; Accession R0040 Systematic name Allele 1 and 2: g.631delT, c.631delT, p.T173fsX200 Original code ARSCID1 Description Allele 1 and 2; frameshift deletion in the exon 2 Date 03-Jul-2000 (Rel. 1, Created) Date 03-Jul-2000 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (03-Jul-2000) to RAG1base. RefLoc J.G. Noordzij, J.J.M. van Dongen, Dept. of Immunology, RefLoc Erasmus University Rotterdam, P.O.Box 1738, 3000DR RefLoc Rotterdam, The Netherlands, Tel +31-104088090, RefLoc Fax +31-104089456, e-mail vandongen@immu.fgg.eur.nl RefNumber [2] RefCrossRef PUBMED; 10891452 RefAuthors Noordzij, J. G., Verkaik, N. S., Hartwig, N. G., de Groot, RefAuthors R., van Gent, D. C., van Dongen, J. J. M. RefTitle N-terminal truncated human RAG1 proteins can direct T-cell RefTitle receptor but not immunoglobulin gene rearrangements RefLoc Blood 96:203-209 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 631 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSFAVPHV RFTSRGTX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 631 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSFAVPHV RFTSRGTX Diagnosis Omenn Syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Age at onset 0 months Sex F Ethnic origin Maroc WBC 69x10E9/l Total lymphoc 60x10E9/l Eosin 1x10E9/l IgA <0.10 IgG 2.73 IgM 0.11 CD3 66 CD4 35 CD45R0 66 CD8 59 // ID #T173X200(2),#T173X200(2); standard; MUTATION; I,I Accession R0044 Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu, Systematic name p.Glu174fsX27 Original code OM3 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the I domain Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age at onset 2 month Sex XY Family history inherited Parents consanguineous Total lymphoc 19500 Eosinophils 10700 IgE 38300 CD19 0 // ID #T173X200(3),#T173X200(3); standard; MUTATION; I,I Accession R0046 Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu, Systematic name p.Glu174fsX27 Original code OM5 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the I domain Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age 0.2 month Sex XX Family history Inherited Parents consanguineous Total lymphoc 12700 Eosinophils 5600 IgE nd // ID #T173X200(4),#T173X200(4); standard; MUTATION; I,I Accession R0051 Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu, Systematic name p.Glu174fsX27 Original code P52 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the I domain Date 24-Feb-2005 (Rel. 1, Created) Date 24-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Family history Inherited Parents consanguineous // ID #T173X200(5),#T173X200(5); standard; MUTATION; Accession R0059 Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu, Systematic name p.Glu174fsX27 Original code P1 Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16276422 RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S., RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L., RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L., RefAuthors Casanova, J. L., Fischer, A., Le Deist, F. RefTitle A novel immunodeficiency associated with hypomorphic RAG1 RefTitle mutations and CMV infection. RefLoc J Clin Invest:3291-3299 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Symptoms Others: Symptoms severe persistent CMV infection Age 0,25 Sex XY Ethnic origin Caucasoid; Algeria Total lymphoc 1.1-1.4 Eosinophils 0.2-0.8 IgA 7 IgG <2 IgM 26 CD3 30 CD4 5 CD8 5 CD19 0 Comment Diagnosis: immunodeficiency with gamma-delta-T cell Comment expansion and autoimmunity // ID #T173X200(6),#T173X200(6); standard; MUTATION; Accession R0082 Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu, Systematic name p.Glu174fsX27 Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon Date 16-Jun-2010 (Rel. 1, Created) Date 16-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19011808 RefAuthors Jaouad, I. C., Ouldim, K., Ali Ou Alla, S., Kriouile, Y., RefAuthors Villa, A., Sefiani, A. RefTitle Omenn syndrome with mutation in RAG1 gene. RefLoc Indian J Pediatr:944-946 (2008) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms alopecia Age 0.3 Sex XX Ethnic origin Morocco CD3 50 CD4 23 CD8 19 // ID Q248X(1),Q248X(1); standard; MUTATION; BIII,BIII Accession R0064 Systematic name Allele 1 and 2: g.7034C>T, c.742C>T, r.742c>u, p.Gln248X Original code P44 Description Allele 1 and 2: A point mutation in the exon 2 leading to a Description premature stop codon in the BIII domain Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7034 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 854 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 248 Feature /change: Q -> X Feature /domain: BIII FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7034 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 854 Feature /codon: cag -> tag; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 248 Feature /change: Q -> X Feature /domain: BIII Diagnosis T and B cell-negative severe combined immunodeficiency Age 0.04 WBC 26.3 IgA 0.126 IgE 1130 IgG 13 IgM 0.249 CD3 60 CD4 44 CD8 26 Comment suspected maternal T-cell engraftment // ID R249H/R841W(1),R249H/R841W(1); standard; MUTATION; ID BIII/BIV,BIII/BIV Accession R0086 Systematic name Allele 1 and 2: g.[7038G>A;8813C>T], c.[746G>A;2521C>T], Systematic name r.[746g>a;2521c>u], p.[Arg249His;Arg841Trp] Description Allele 1 and 2: Two point mutations in the exon 2 leading Description to one amino acid change in the BIII domain and one Description aminoacid change in BIV domain Date 22-Jun-2010 (Rel. 1, Created) Date 22-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18592361 RefAuthors Ohm-Laursen, L., Nielsen, C., Fisker, N., Lillevang, S. RefAuthors T., Barington, T. RefTitle Lack of nonfunctional B-cell receptor rearrangements in a RefTitle patient with normal B cell numbers despite partial RAG1 RefTitle deficiency and atypical SCID/omenn syndrome. RefLoc J Clin Immunol:588-592 (2008) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 3 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7038 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature dna; 2 Feature /rnalink: 4 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 3 Feature /dnalink: 1 Feature /aalink: 5 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 858 Feature /codon: cgc -> cac; 2 Feature rna; 4 Feature /dnalink: 2 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 5 Feature /rnalink: 3 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 249 Feature /change: R -> H Feature /domain: BIII Feature aa; 6 Feature /rnalink: 4 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV FeatureHeader allele; 2 Feature dna; 7 Feature /rnalink: 9 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7038 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature dna; 8 Feature /rnalink: 10 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 9 Feature /dnalink: 7 Feature /aalink: 11 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 858 Feature /codon: cgc -> cac; 2 Feature rna; 10 Feature /dnalink: 8 Feature /aalink: 12 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 11 Feature /rnalink: 9 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 249 Feature /change: R -> H Feature /domain: BIII Feature aa; 12 Feature /rnalink: 10 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Pneumonia; Protracted diarrhea; Symptoms Others: Symptoms erythrodermic nonpruritic eczema Symptoms several respiratory Age 0.2 Sex XY Ethnic origin Palestine WBC 6.6 Total lymphoc 1.0 Eosinophils 1.3 IgA 0.09 IgG 4.0 IgM 1.24 // ID #A255X263(1),R404Q(2); standard; MUTATION; ,INV Accession R0074 Systematic name Allele 1: g.7057delA, c.765delA, r.765dela, p.Arg256fsX8 Systematic name Allele 2: g.7503G>A, c.1211G>A, r.1211g>a, p.Arg404Gln Original code P59 Description Allele 1: A frame shift deletion mutation in the exon 2 Description leading to a premature stop codon Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 7057 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 877 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 255 Feature /change: A -> AGSAARMSX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: INV Diagnosis Omenn Syndrome // ID #S259X263(1),#S259X263(1); standard; MUTATION; Accession R0041 Systematic name Allele 1 and 2: g.887delA, c.887delA, p.S259fsX263 Original code OS13 Description Allele 1 and 2; frameshift deletion in the exon 2 Date 25-Jan-2001 (Rel. 1, Created) Date 25-Jan-2001 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11121059 RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F., RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A. RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome: RefTitle internal methionine usage leads to partial V(D)J RefTitle recombination activity and reveals a fundamental role in RefTitle vivo for the N-terminal domains RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000) DB CrossRef OMIM; 179615.0014 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 887 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 887 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 259 Feature /change: S -> ARMSX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 887 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 887 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 259 Feature /change: S -> ARMSX Diagnosis Omenn syndrome // ID R314W(1),R507W/R737H(1); standard; MUTATION; ZRF,?/ZFB Accession R0088 Systematic name Allele 1: g.7232C>T, c.940C>T, r.940c>u, p.Arg314Trp Systematic name Allele 2: g.[7811C>T;8502G>A], c.[1519C>T;2210G>A], Systematic name r.[1519c>u;2210g>a], p.[Arg507Trp;Arg737His] Original code P.1 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change in the ZRF domain Description Allele 2: Two point mutations in the exon 2 leading to Description two amino acids changes, one in ZFB domain. Date 29-Jul-2010 (Rel. 1, Created) Date 29-Jul-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18463379 RefAuthors Schuetz, C., Huck, K., Gudowius, S., Megahed, M., Feyen, RefAuthors O., Hubner, B., Schneider, D. T., Manfras, B., Pannicke, RefAuthors U., Willemze, R., Knuchel, R., Gobel, U., Schulz, A., RefAuthors Borkhardt, A., Friedrich, W., Schwarz, K., Niehues, T. RefTitle An immunodeficiency disease with RAG mutations and RefTitle granulomas. RefLoc N Engl J Med:2030-2038 (2008) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7232 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1052 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 314 Feature /change: R -> W Feature /domain: ZRF FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 6 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7811 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature dna; 5 Feature /rnalink: 7 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8502 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 6 Feature /dnalink: 4 Feature /aalink: 8 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1631 Feature /codon: cgg -> tgg; 1 Feature rna; 7 Feature /dnalink: 5 Feature /aalink: 9 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2322 Feature /codon: cgt -> cat; 2 Feature aa; 8 Feature /rnalink: 6 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 507 Feature /change: R -> W Feature aa; 9 Feature /rnalink: 7 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 737 Feature /change: R -> H Feature /domain: ZFB Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Skin lesions; Parakeratosis; Epidermal hyperplasia; Age 3 Sex XX IgA <6 mg/dl IgE <4.4 IU/ml IgG 92-209 mg/dl IgM <5 mg/dl Comment Patient had received stem-cell transplantation from a Comment matched unrelated donor. // ID C328Y(1),C328Y(1); standard; MUTATION; Accession R0023 Systematic name Allele 1 and 2: g.1095G>A, c.1095G>A, p.C328Y Original code P28 Description Allele 1 and 2; missense mutation in the exon 2 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1095 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1095 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 328 Feature /change: C -> Y FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1095 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1095 Feature /codon: tgt -> tat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 328 Feature /change: C -> Y Diagnosis Omenn syndrome Symptoms Skin rash; Pneumonia; Lymphoadenopathy; Hepatomegaly; Symptoms Protracted diarrhea Age at onset 3 months WBC 1.0 Total lymphoc 0.64 Eosin 0.01 IgA 0.52 IgE 19.9 kU/I IgG 4.93 IgM 0.29 CD3 58 CD4 26 CD45RA 2.7 CD45R0 96.3 CD8 27 CD16 30 CD19/CD20 <1 DR 50 PHA 2.5 MFT - // ID #P329X344(1),#P329X344(1); standard; MUTATION; ZRF,ZRF Accession R0099 Systematic name Allele 1 and 2: g.7279delC, c.987delC, r.987delc, Systematic name p.Ser330fsX15 Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon in the ZRF domain Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 7279 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1099 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 329 Feature /change: P -> PLADIHASLL TWRVQX Feature /domain: ZRF FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 7279 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1099 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 329 Feature /change: P -> PLADIHASLL TWRVQX Feature /domain: ZRF Diagnosis T and B cell-negative severe combined immunodeficiency Age 1,3 Sex XY Ethnic origin Caucasoid; Italia Family history Not known // ID #L354X356(1),L872X(2); standard; MUTATION; Accession R0027 Systematic name Allele 1: g.1173delT, c.1173delT, p.L354fsX356 Systematic name Allele 2: g.2727T>A, c.2727T>A, p.L872X Original code P7 Description Allele 1; frameshift deletion in the exon 2 and Description Allele 2; nonsense mutation in the exon 2 leading to stop Description codons and premature termination Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1173 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1173 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 354 Feature /change: L -> RWX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2727 Feature /change: t -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727 Feature /codon: tta -> taa; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872 Feature /change: F -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Skin rash; Age at onset 1 week WBC 11.3 Total lymphoc 4.18 Eosin 0.34 IgA 0.69 IgE n.d. IgG 9.33 maternally-derived IgM 0.56 CD3 1 CD4 3 CD45RA n.d. CD45R0 n.d. CD8 42 CD16 64 CD19/CD20 <1 DR n.d. PHA 13 MFT - // ID #S382X402(1),#S382X402(1); standard; MUTATION; Accession R0012 Systematic name Allele 1 and 2: g.1258delA, c.1258delA, p.S382fsX402 Original code P15 Description Allele 1 and 2; frameshift deletion leading to stop codon Description and premature termination Date 26-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1258 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1258 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 382 Feature /change: S -> SKRFFCTFIK GAGPANIFCR X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1258 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1258 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 382 Feature /change: S -> SKRFFCTFIK GAGPANIFCR X Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Skin rash; Pneumonia; Lymphoadenopathy; Symptoms Protracted diarrhea Age at onset 1 month WBC 20.6 Total lymphoc 1.6 Eosin n.a. IgA 1.91 IgE <2 kU/I IgG 1.79 IgM 1.75 CD3 43.7 CD4 39.4 CD45RA <1 CD45R0 93.8 CD8 4 CD16 36.1 CD19/CD20 2 DR n.a. PHA 17 MFT + // ID R394W(1),R394W(1); standard; MUTATION; INV,INV Accession R0063 Systematic name Allele 1 and 2: g.7472C>T, c.1180C>T, r.1180c>u, Systematic name p.Arg394Trp Original code P42 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change in the INV domain Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7472 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 394 Feature /change: R -> W Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7472 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 394 Feature /change: R -> W Feature /domain: INV Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Protracted diarrhea; Symptoms Others: Symptoms Recurrent URTI, Generalised oedema Age 0,2 WBC 11.4 IgA <0.234 IgE 5.38 IgG <1.35 IgM <0.171 CD3 54.7 CD4 47.5 CD4+CD45RA+ 42.5 CD4+CD45R0+ 58 CD8 6.75 // ID R394W(2),R394W(2); standard; MUTATION; INV,INV Accession R0075 Systematic name Allele 1 and 2: g.7472C>T, c.1180C>T, r.1180c>u, Systematic name p.Arg394Trp Original code P60 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change in the INV domain Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7472 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 394 Feature /change: R -> W Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7472 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 394 Feature /change: R -> W Feature /domain: INV Diagnosis Omenn Syndrome // ID R396C(1a),R396C(1a); standard; MUTATION; Accession R0008 Systematic name Allele 1 and 2: g.1298C>T, c.1298C>T, p.R396C Original code OS6 ref [1]; P16b ref [2] Description Allele 1 and 2; missense mutation leading to amino acid Description change in homeodomain, DNA binding Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0006 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Protracted diarrhea Age at onset 4 months Relative RAG1; R0035 sibling WBC 9.5 Total lymphoc 2.7 Eosin 1.15 IgA 0.10 IgE 1690 kU/I IgG 2 IgM 0.50 CD3 50 CD4 n.d. CD45RA n.d. CD45R0 n.d. CD8 n.d. CD16 n.d. CD19/CD20 16 DR n.d. PHA 24 MFT - // ID R396C(1b),R396C(1b); standard; MUTATION; Accession R0035 Systematic name Allele 1 and 2: g.1298C>T, c.1298C>T, p.R396C Original code P16a Description Allele 1 and 2; missense mutation leading to amino acid Description change in homeodomain, DNA binding Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C Diagnosis Leaky severe combined immunodeficiency Age at onset 2 months Relative RAG1; R0008 sibling WBC 6.1 Total lymphoc 2.4 Eosin 1.4 IgA <0.07 IgE n.d. IgG 5.8 maternally-derived IgM 0.07 CD3 4 CD4 3 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 88 CD19/CD20 <1 DR n.d. PHA <1 MFT - Comment Diagnosed at 2 months of age because of an older sibling Comment who had died with typical Omenn syndrome, was immediately Comment treated by allogenic BMT when still asymptomatic // ID R396C(2a),L885R(1a); standard; MUTATION; Accession R0038 Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C Systematic name Allele 2: g.2766T>G, c.2766T>G, p.L885R Original code Case 1 Description Allele 1 and 2; missense mutation in the exon 2 Date 27-Apr-2000 (Rel. 1, Created) Date 26-Jul-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10606976 RefAuthors Wada, T., Takei, K., Kudo, M., Shimura, S., Kasahara, Y., RefAuthors Koizumi, S., Kawa-Ha, K., Ishida, Y., Imashuku, S., Seki, RefAuthors H., Yachie, A. RefTitle Characterization of immune function and analysis of RAG RefTitle gene mutations in Omenn syndrome and related disorders RefLoc Clin. Exp. Immunol. 119:148-55 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2766 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2766 Feature /codon: ctg -> cgg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 885 Feature /change: L -> R Diagnosis Omenn Syndrome Symptoms Erythrodermia; Hepatomegaly; Adenopathy Age at onset 0 day Sex XY Ethnic origin Mongoloid; Japan Relative RAG1; R0039 brother Total lymphoc 8.91 Eosin 6.24 IgA <.5 IgE >2000 U/ml IgG 38 IgM <.5 CD3 69 CD4 35 CD8 41 CD16 20 PHA 3914 // ID R396C(2b),L885R(1b); standard; MUTATION; Accession R0039 Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C Systematic name Allele 2: g.2766T>G, c.2766T>G, p.L885R Original code Case 2 Description Allele 1 and 2; missense mutation in the exon 2 Date 27-Apr-2000 (Rel. 1, Created) Date 26-Jul-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10606976 RefAuthors Wada, T., Takei, K., Kudo, M., Shimura, S., Kasahara, Y., RefAuthors Koizumi, S., Kawa-Ha, K., Ishida, Y., Imashuku, S., Seki, RefAuthors H., Yachie, A. RefTitle Characterization of immune function and analysis of RAG RefTitle gene mutations in Omenn syndrome and related disorders RefLoc Clin. Exp. Immunol. 119:148-55 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2766 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2766 Feature /codon: ctg -> cgg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 885 Feature /change: L -> R Diagnosis Omenn Syndrome Symptoms Erythrodermia; Hepatomegaly; Adenopathy Age at onset 0 day Sex XY Ethnic origin Mongoloid; Japan Relative RAG1; R0038 brother Total lymphoc 2.98 Eosin 3.73 IgA <.7 IgE >2000 U/ml IgG 91.1 IgM <.7 CD3 65 CD4 62 CD8 9 CD16 15 PHA 10240 // ID R396C(3),Y912C(1); standard; MUTATION; Accession R0005 Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C Systematic name Allele 2: g.2847A>G, c.2847A>G, p.Y912C Original code C.A. ref [1]; OS3 ref [2]; P33 ref [3] Description Allele 1; missense mutation in the exon 2 leading to amino Description acid change in homeodomain, DNA binding Description Allele 2; missense mutation in the exon 2 leading to amino Description acid change in active core domain Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9394797 RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L., RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D. RefTitle In vitro cell death of activated lymphocytes in Omenn's RefTitle syndrome RefLoc Eur. J. Immunol. 27:2765-2773 (1997) RefNumber [2] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [3] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0006 DB CrossRef OMIM; 179615.0007 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1298 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2847 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2847 Feature /codon: tac -> tgc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 912 Feature /change: Y -> C Diagnosis Omenn syndrome Symptoms Erythrodermia; Skin rash; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea Age at onset 3 months WBC 45.1 Total lymphoc 26.29 Eosin 2.25 IgA 0.54 IgE >3000 kU/I IgG 7.76 IgM 0.74 CD3 83 CD4 43 CD45RA 3 CD45R0 97 CD8 29 CD16 7 CD19/CD20 <1 DR 72 PHA 1.6 MFT - // ID R396C(4a),L885R(2a); standard; MUTATION; INV, Accession R0090 Systematic name Allele 1: g.7478C>T, c.1186C>T, r.1186c>u, p.Arg396Cys Systematic name Allele 2: g.8946T>G, c.2654T>G, r.2654u>g, p.Leu885Arg Original code Case1 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change in the INV domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 04-Aug-2010 (Rel. 1, Created) Date 04-Aug-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17075247 RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y., RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A. RefTitle Omenn syndrome--review of several phenotypes of omenn RefTitle syndrome and RAG1/RAG2 mutations in japan. RefLoc Allergol Int:115-119 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7478 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 396 Feature /change: R -> C Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8946 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2766 Feature /codon: ctg -> cgg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 885 Feature /change: L -> R Diagnosis Omenn syndrome Symptoms Hepatosplenomegaly; Lymphnode swelling; Eczema; Symptoms Eosinophilia; IgE elevation; Age 2 mo Ethnic origin Japan Relative RAG1base; R0091 sibling // ID R396C(4b),L885R(2b); standard; MUTATION; INV, Accession R0091 Systematic name Allele 1: g.7478C>T, c.1186C>T, r.1186c>u, p.Arg396Cys Systematic name Allele 2: g.8946T>G, c.2654T>G, r.2654u>g, p.Leu885Arg Original code Case2 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change in the INV domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 04-Aug-2010 (Rel. 1, Created) Date 04-Aug-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17075247 RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y., RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A. RefTitle Omenn syndrome--review of several phenotypes of omenn RefTitle syndrome and RAG1/RAG2 mutations in japan. RefLoc Allergol Int:115-119 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7478 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1298 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 396 Feature /change: R -> C Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8946 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2766 Feature /codon: ctg -> cgg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 885 Feature /change: L -> R Diagnosis Omenn syndrome Symptoms Hepatosplenomegaly; Lymphnode swelling; Eczema; Symptoms Eosinophilia; IgE elevation; Age 0 Ethnic origin Japan Relative RAG1base; R0090 sibling // ID R396H(1),#I537X566(1); standard; MUTATION; Accession R0006 Systematic name Allele 1: g.1299G>A, c.1299G>A, p.R396H Systematic name Allele 2: g.1723_1735delTATTGATGGGCTG, Systematic name c.1723_1735delTATTGATGGGCTG, p.I537fsX566 Original code C.N. ref [1]; OS4 ref [2]; P31 ref [3] Description Allele 1; missense mutation leading to amino acid change in Description homeodomain, DNA binding Description Allele 2; frameshift deletion leading to truncated protein Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9394797 RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L., RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D. RefTitle In vitro cell death of activated lymphocytes in Omenn's RefTitle syndrome RefLoc Eur. J. Immunol. 27:2765-2773 (1997) RefNumber [2] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [3] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0008 DB CrossRef OMIM; 179615.0012 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1299 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1299 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1723..1735 Feature /change: -tattgatggg ctg Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1723..1735 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 537..541 Feature /change: IIDGL -> ILDYHPLWMI TQWTPLQRGS AMIQLWCLLX Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Symptoms Lymphoadenopathy; Hepatomegaly; Age at onset 1 month WBC 23.5 Total lymphoc 12.0 Eosin 6.01 IgA <0.06 IgE 1 kU/I IgG <0.37 IgM 0.12 CD3 92 CD4 24 CD45RA 8.3 CD45R0 91.7 CD8 68 CD16 7 CD19/CD20 <1 DR 70 PHA 21.3 MFT - // ID R396H(2),R396H(2); standard; MUTATION; INV,INV Accession R0081 Systematic name Allele 1 and 2: g.7479G>A, c.1187G>A, r.1187g>a, Systematic name p.Arg396His Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change in the INV domain Date 16-Jun-2010 (Rel. 1, Created) Date 16-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19830075 RefAuthors Al Balwi, M., Al Ajaji, S., Al Abdulkareem, I., Hajeer, A. RefTitle Homozygous R396H mutation of the RAG1 gene in a saudi RefTitle infant with omenn's syndrome: a case report. RefLoc Cases J:8391 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7479 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 396 Feature /change: R -> H Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7479 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 396 Feature /change: R -> H Feature /domain: INV Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Protracted diarrhea; Age 0.2 Sex XX Ethnic origin Saudi Arab CD4 21 CD8 33 // ID R396L(1),R975Q(1); standard; MUTATION; Accession R0034 Systematic name Allele 1: g.1299G>T, c.1299G>T, p.R396L Systematic name Allele 2: g.3036G>A, c.3036G>A, p.R975Q Original code P36 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1299 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1299 Feature /codon: cgc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396 Feature /change: R -> L FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 3036 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 3036 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 975 Feature /change: R -> Q Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 4 month WBC 9.5 Total lymphoc 2.7 Eosin 1.15 IgA 0.10 IgE 1690 kU/I IgG 2 IgM 0.50 CD3 50 CD4 n.d. CD45RA n.d. CD45R0 n.d. CD8 n.d. CD16 n.d. CD19/CD20 16 DR n.d. PHA 24 MFT - // ID S401P(1),S401P(1); standard; MUTATION; Accession R0020 Systematic name Allele 1 and 2: g.1313T>C, c.1313T>C, p.S401P Original code P27 Description Allele 1 and 2; missense mutation in the exon 2 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1313 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1313 Feature /codon: tcg -> ccg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 401 Feature /change: S -> P FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1313 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1313 Feature /codon: tcg -> ccg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 401 Feature /change: S -> P Diagnosis Omenn syndrome Symptoms Skin rash; Pneumonia; Lymphoadenopathy; Hepatomegaly Age at onset 1.5 month WBC 4.5 Total lymphoc 2.79 Eosin 1.35 IgA n.d. IgE 166 kU/I IgG 4.97 IgM n.d. CD3 88 CD4 83 CD45RA <1 CD45R0 99 CD8 5 CD16 6 CD19/CD20 <1 DR 55 PHA 15 MFT n.d. // ID R404Q(1a),R404Q(1a); standard; MUTATION; DNAB,DNAB Accession R0053 Systematic name Allele 1 and 2: g.7503G>A, c.1211G>A, r.1211g>a, Systematic name p.Arg404Gln Original code RAG-SCID 7.1 Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change in the DNAB domain Date 24-Feb-2005 (Rel. 1, Created) Date 24-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12200379 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S., RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A. RefAuthors W., van Gent, D. C., van Dongen, J. J. RefTitle The immunophenotypic and immunogenotypic B-cell RefTitle differentiation arrest in bone marrow of RAG-deficient RefTitle SCID patients corresponds to residual recombination RefTitle activities of mutated RAG proteins. RefLoc Blood 100:2145-2152 (2002) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: DNAB Diagnosis T and B cell-negative severe combined immunodeficiency Sex XX Family history Inherited Relative RAG1base; R0054 sister // ID R404Q(1b),R404Q(1b); standard; MUTATION; DNAB,DNAB Accession R0054 Systematic name Allele 1 and 2: g.7503G>A, c.1211G>A, r.1211g>a, Systematic name p.Arg404Gln Original code RAG-SCID 7.1 Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change in the DNAB domain Date 24-Feb-2005 (Rel. 1, Created) Date 24-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12200379 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S., RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A. RefAuthors W., van Gent, D. C., van Dongen, J. J. RefTitle The immunophenotypic and immunogenotypic B-cell RefTitle differentiation arrest in bone marrow of RAG-deficient RefTitle SCID patients corresponds to residual recombination RefTitle activities of mutated RAG proteins. RefLoc Blood 100:2145-2152 (2002) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: DNAB Diagnosis T and B cell-negative severe combined immunodeficiency Sex XX Family history Inherited Relative RAG1base; R0053 sister // ID R405G(1),R624H(3); standard; MUTATION; INV, Accession R0100 Systematic name Allele 1: g.7505A>G, c.1213A>G, r.1213a>g, p.Arg405Gly Systematic name Allele 2: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His Original code PID31 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change in the INV domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7505 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1325 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 405 Feature /change: R -> G Feature /domain: INV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8163 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983 Feature /codon: cgt -> cat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 624 Feature /change: R -> H Diagnosis Leaky severe combined immunodeficiency Age 3 Sex XX Ethnic origin Caucasoid; Italia Family history Inherited // ID R561C(3),R404Q(3); standard; MUTATION; ,INV Accession R0076 Systematic name Allele 1: g.7973C>T, c.1681C>T, r.1681c>u, p.Arg561Cys Systematic name Allele 2: g.7503G>A, c.1211G>A, r.1211g>a, p.Arg404Gln Original code P61 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7973 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1793 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7503 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> Q Feature /domain: INV Diagnosis Omenn Syndrome // ID R404W(1),#S875X882(1); standard; MUTATION; DNAB, Accession R0045 Systematic name Allele 1: g.7502C>T, c.1210C>T, r.1210c>u, p.Arg404Trp Systematic name Allele 2: g.8915delT, c.2623delT, r.2623delu, p.Ser875fsX8 Original code OM4 Description Allele 1: a point mutation in the exon 2 leading to an Description amino acid change in the DNAB domain Description Allele 2: a frame shift deletion in the exon 2 leading to a Description premature stop codon Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7502 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1322 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 404 Feature /change: R -> W Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 8915 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2735 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 875 Feature /change: S -> PRRGTRLX Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age at onset 2 months Sex XY Family history Inherited Total lymphoc 3000 Eosinophils 3200 IgE 64 CD19 0 // ID R410Q(1),R841W(1); standard; MUTATION; Accession R0014 Systematic name Allele 1: g.1341G>A, c.1341G>A, p.R410Q Systematic name Allele 2: g.2633C>T, c.2633C>T, p.R841W Original code P22 Description Allele 1 and 2; missense mutation in the exon 2 Date 26-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1341 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1341 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 410 Feature /change: R -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2633 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 841 Feature /change: R -> W Diagnosis leaky severe combined immunodeficiency Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Protracted diarrhea Age at onset 1 month WBC 3.6 Total lymphoc 1.01 Eosin 1.2 IgA 0.17 IgE >1000 kU/I IgG 6.54 IgM 0.47 CD3 20 CD4 17 CD45RA 2 CD45R0 98 CD8 16 CD16 33 CD19/CD20 15 DR 24 PHA 6.8 MFT - // ID V433M(1),A444V(3); standard; MUTATION; Accession R0031 Systematic name Allele 1: g.1409G>A, c.1409G>A, p.V433M Systematic name Allele 2: g.1443C>T, c.1443C>T, p.A444V Original code P18 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1409 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1409 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 433 Feature /change: V -> M FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1443 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443 Feature /codon: gcg -> gtg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444 Feature /change: A -> V Diagnosis Leaky severe combined immunodeficiency Symptoms Pneumonia; Hepatomegaly; Protracted diarrhea Age at onset 2 months WBC 1.0 Total lymphoc 0.19 Eosin 0.14 IgA 0.05 IgE n.d. IgG 3.78 IgM 0.32 CD3 27 CD4 20 CD45RA 5 CD45R0 95 CD8 7 CD16 56 CD19/CD20 4 DR 31 PHA 2 MFT n.d. // ID M435V(1),R559S(1); standard; MUTATION; Accession R0037 Systematic name Allele 1: g.1415A>G, c.1415A>G, p.M435V Systematic name Allele 2: g.1789G>T, c.1789G>T, p.R559S Original code P40 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1415 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1415 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 435 Feature /change: M -> V FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1789 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1789 Feature /codon: agg -> agt; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 559 Feature /change: R -> S Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1 month WBC 8.3 Total lymphoc 5.81 Eosin 0.59 IgA 0.22 IgE n.d. IgG 1.86 IgM 0.20 CD3 94 CD4 79 CD45RA <1 CD45R0 99 CD8 13 CD16 6 CD19/CD20 <1 DR 83 PHA <1 MFT - // ID A444V(1),A444V(1); standard; MUTATION; Accession R0013 Systematic name Allele 1 and 2: g.1443C>T, c.1443C>T, p.A444V Original code P41 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1443 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444 Feature /change: A -> V FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1443 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443 Feature /codon: gcg -> gtg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444 Feature /change: A -> V Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 3 months WBC 2.9 Total lymphoc 1.0 Eosin 1.7 IgA <0.07 IgE n.d. IgG 0.62 IgM 0.13 CD3 31 CD4 13 CD45RA n.d. CD45R0 n.d. CD8 11 CD16 68 CD19/CD20 <1 DR n.d. PHA <1 MFT - // ID A444V(2),A444V(2); standard; MUTATION; Accession R0032 Systematic name Allele 1 and 2: g.1443C>T, c.1443C>T, p.A444V Original code P23 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1443 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444 Feature /change: A -> V FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1443 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443 Feature /codon: gcg -> gtg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444 Feature /change: A -> V Diagnosis Leaky severe combined immunodeficiency Symptoms Erythrodermia; Skin rash; Pneumonia; Age at onset 1 month WBC 21.0 Total lymphoc 9.45 Eosin 1.68 IgA <0.08 IgE 45 kU/I IgG 0.15 IgM <0.07 CD3 87 CD4 53 CD45RA n.d. CD45R0 n.d. CD8 36 CD16 13 CD19/CD20 1 DR 75 PHA 41 MFT - // ID R449K(1),R449K(1); standard; MUTATION; Accession R0078 Systematic name Allele 1 and 2: g.7638G>A, c.1346G>A, r.1346g>a, Systematic name p.Arg449Lys Original code P63 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7638 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1458 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 449 Feature /change: R -> K FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7638 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1458 Feature /codon: agg -> aag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 449 Feature /change: R -> K Diagnosis Omenn Syndrome Symptoms Others: Symptoms Recurrent URTI Age 0.1 WBC 19.2 IgA <0.1 IgG 1 IgM 0.1 CD4+CD45RA+ 4 CD4+CD45R0+ 96 // ID #C470X509(1),#C470X509(1); standard; MUTATION; Accession R0028 Systematic name Allele 1 and 2: g.1521_1522delGC, c.1521_1522delGC, Systematic name p.C470fsX509 Original code P8 Description Allele 1 and 2; frameshift deletion in the exon 2 leading Description to stop codon and premature termination Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1521..1522 Feature /change: -gc Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1521..1522 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 470 Feature /change: C Feature /change: -> FGHPCQHLPQ LQSVPQDVQD CESHHRETDF SAFACPSECX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 1521..1522 Feature /change: -gc Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 1521..1522 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 470 Feature /change: C Feature /change: -> FGHPCQHLPQ LQSVPQDVQD CESHHRETDF SAFACPSECX Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive; Skin rash; Pneumonia; Protracted Symptoms diarrhea Age at onset 4 months WBC 8.6 Total lymphoc 0.43 Eosin <0.05 IgA <0.08 IgE n.d. IgG 1.05 IgM <0.07 CD3 1 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 1 CD16 91 CD19/CD20 <1 DR n.d. PHA 15 MFT - // ID R474H(1),H753L(1); standard; MUTATION; Accession R0030 Systematic name Allele 1: g.1533G>A, c.1533G>A, p.R474H Systematic name Allele 2: g.2370A>T, c.2370A>T, p.H753L Original code P17 Description Allele 1 and 2; missense mutation in the exon 2 Date 28-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1533 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1533 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 474 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2370 Feature /change: a -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2370 Feature /codon: cat -> ctt; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 753 Feature /change: H -> L Diagnosis Leaky severe combined immunodeficiency Symptoms Failure to thrive; Protracted diarrhea Age at onset 3.5 months WBC 3.2 Total lymphoc 0.34 Eosin 0.03 IgA 0.25 IgE n.d. IgG n.d. IgM 0.25 CD3 27 CD4 25 CD45RA n.d. CD45R0 n.d. CD8 2 CD16 50 CD19/CD20 11 DR n.d. PHA 49 MFT - // ID R474H(2),C730F(1); standard; MUTATION; Accession R0047 Systematic name Allele 1: g.7713G>A, c.1421G>A, r.1421g>a, p.Arg474His Systematic name Allele 2: g.8481G>T, c.2189G>T, r.2189g>u, p.Cys730Phe Original code OM6 Description Allele 1: a point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: a point mutation in the exon 2 leading to an Description amino acid change Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7713 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1533 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 474 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8481 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2301 Feature /codon: tgt -> ttt; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 730 Feature /change: C -> F Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age 3 month Sex XX Family history Inherited Total lymphoc 6000 Eosinophils 6700 IgE 20000 // ID R474H(3),R624C(2); standard; MUTATION; Accession R0087 Systematic name Allele 1: g.7713G>A, c.1421G>A, r.1421g>a, p.Arg474His Systematic name Allele 2: g.8162C>T, c.1870C>T, r.1870c>u, p.Arg624Cys Original code P.1 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 28-Jul-2010 (Rel. 1, Created) Date 28-Jul-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18822103 RefAuthors Gruber, T. A., Shah, A. J., Hernandez, M., Crooks, G. M., RefAuthors Abdel-Azim, H., Gupta, S., McKnight, S., White, D., RefAuthors Kapoor, N., Kohn, D. B. RefTitle Clinical and genetic heterogeneity in omenn syndrome and RefTitle severe combined immune deficiency. RefLoc Pediatr Transplant:244-250 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7713 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1533 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 474 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8162 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1982 Feature /codon: cgt -> tgt; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 624 Feature /change: R -> C Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Pneumonia; Diarrhea; Neutropenia; Age 4 mo Sex XX IgA 30 mg/dl IgE <2 mg/dl IgG 177 mg/dl IgM 33 mg/dl // ID R474S(1),A622P(1); standard; MUTATION; Accession R0071 Systematic name Allele 1: g.7712C>A, c.1420C>A, r.1420c>a, p.Arg474Ser Systematic name Allele 2: g.8156G>C, c.1864G>C, r.1864g>c, p.Ala622Pro Original code P55 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7712 Feature /change: c -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1532 Feature /codon: cgt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 474 Feature /change: R -> S FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8156 Feature /change: g -> c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1976 Feature /codon: gca -> cca; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 622 Feature /change: A -> P Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Infections: Symptoms Failure to thrive; Hepatomegaly; Age 0.2 WBC 5.6 IgG 1.42 IgM 0.01 CD3 0.5 CD4 0.7 // ID R507W(1),R561C(2); standard; MUTATION; Accession R0024 Systematic name Allele 1: g.1631C>T, c.1631C>T, p.R507W Systematic name Allele 2: g.1793C>T, c.1793C>T, p.R561C Original code P19 Description Allele 1 and 2; missense mutation in the exon 2 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1631 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1631 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 507 Feature /change: R -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1793 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1793 Feature /codon: cgc -> tgc; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561 Feature /change: R -> C Diagnosis Leaky severe combined immunodeficiency Symptoms Skin rash Age at onset 3 months WBC 7.5 Total lymphoc 3.15 Eosin 0.6 IgA <0.03 IgE n.d. IgG 8.58 IgM 0.07 CD3 4 CD4 5 CD45RA n.d. CD45R0 n.d. CD8 56 CD16 83 CD19/CD20 3 DR 18 PHA 1 MFT n.d. // ID W522C(1),E722K(3); standard; MUTATION; Accession R0018 Systematic name Allele 1: g.1678G>T, c.1678G>T, p.W522C Systematic name Allele 2: g.2276G>A, c.2276G>A, p.E722K Original code P3 ref [1]; P25 ref [2] Description Allele 1 and 2; missense mutation in the exon 2 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10701853 RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth, RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P. RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome RefLoc Prenat. Diagn. 20:56-59 (2000) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1678 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1678 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 522 Feature /change: W -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2276 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276 Feature /codon: gag -> aag; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722 Feature /change: E -> K Diagnosis Leaky severe combined immunodeficiency Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Hepatomegaly; Protracted diarrhea Age at onset 1.5 month WBC 8.0 Total lymphoc 1.12 Eosin 3.84 IgA 0.16 IgE 5 kU/I IgG 1.20 IgM 0.17 CD3 39 CD4 34 CD45RA n.d. CD45R0 n.d. CD8 16 CD16 39 CD19/CD20 <1 DR 22 PHA 12 MFT n.d. // ID W522C(3),R973C(1); standard; MUTATION; ,BV Accession R0094 Systematic name Allele 1: g.7858G>T, c.1566G>T, r.1566g>u, p.Trp522Cys Systematic name Allele 2: g.9209C>T, c.2917C>T, r.2917c>u, p.Arg973Cys Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change in the BV domain Date 21-Aug-2013 (Rel. 1, Created) Date 21-Aug-2013 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (21-Aug-2013) to RAG1base. RefLoc MONICA MARTINEZ GALLO; Pg. Vall d'Hebron 119-129. 08035 RefLoc -Barcelona- SPAIN ; Tel +34 93 2746100 ext 6983; e-mail RefLoc monica.mgallo@gmail.com FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7858 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1678 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 522 Feature /change: W -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9209 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3029 Feature /codon: cgc -> tgc; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 973 Feature /change: R -> C Feature /domain: BV Diagnosis Omenn Syndrome Symptoms Others: Symptoms Haemolytic anemia Age 1 Sex XY Ethnic origin Caucasoid; Spain Family history De novo Relative Heterozygous father and brother c.1566G>T. Mother without Relative variations. WBC 7100 Total lymphoc 1280 Eosinophils 100 IgA 54 IgE 148 IgG 1055 IgM 236 CD3 35 CD4 22 CD4+CD45RA+ 10 CD4+CD45R0+ 90 CD8 13 CD16 23 CD19 41 DR 65 // ID R559S(2),R897X(2); standard; MUTATION; Accession R0052 Systematic name Allele 1: g.7969G>T, c.1677G>T, r.1677g>u, p.Arg559Ser Systematic name Allele 2: g.8981C>T, c.2689C>T, r.2689c>u, p.Arg897X Description Allele 1: a point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: a point mutation in the exon 2 leading to a Description premature stop codon Date 24-Feb-2005 (Rel. 1, Created) Date 24-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9885222 RefAuthors Kumaki, S., Ishii, N., Minegishi, M., Tsuchiya, S., RefAuthors Cosman, D., Sugamura, K., Konno, T. RefTitle Functional role of interleukin-4 (IL-4) and IL-7 in the RefTitle development of X-linked severe combined immunodeficiency. RefLoc Blood 93:607-612 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7969 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1789 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 559 Feature /change: R -> S FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8981 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2801 Feature /codon: cga -> tga; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 897 Feature /change: R -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Others: Symptoms recurrent infections, thrombocytopenia, transient neutropenia Age 4 months Sex XX Family history Inherited Eosinophils 9308 IgE 611 IgM 347 // ID R559S(3),R897X(3); standard; MUTATION; Accession R0092 Systematic name Allele 1: g.7969G>T, c.1677G>T, r.1677g>u, p.Arg559Ser Systematic name Allele 2: g.8981C>T, c.2689C>T, r.2689c>u, p.Arg897X Original code Case3 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to a Description premature stop codon Date 04-Aug-2010 (Rel. 1, Created) Date 04-Aug-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17075247 RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y., RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A. RefTitle Omenn syndrome--review of several phenotypes of omenn RefTitle syndrome and RAG1/RAG2 mutations in japan. RefLoc Allergol Int:115-119 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7969 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1789 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 559 Feature /change: R -> S FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8981 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2801 Feature /codon: cga -> tga; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 897 Feature /change: R -> X Diagnosis Omenn syndrome Symptoms Lymphnode swelling; Eczema; Eosinophilia; IgE elevation; Age 4 mo Ethnic origin Japan // ID R561H(1),R561H(1); standard; MUTATION; Accession R0004 Systematic name Allele 1 and 2: g.1794G>A, c.1794G>A, p.R561H Original code R.C. ref [1]; OS2 ref [2]; P35 ref [3] Description Allele 1 and 2; missense mutation in the exon 3 leading to Description amino acid change in RAG-2 interaction domain Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9394797 RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L., RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D. RefTitle In vitro cell death of activated lymphocytes in Omenn's RefTitle syndrome RefLoc Eur. J. Immunol. 27:2765-2773 (1997) RefNumber [2] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [3] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0005 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1794 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1794 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561 Feature /change: R -> H Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1 month WBC 12.0 Total lymphoc 0.72 Eosin 4.54 IgA <0.06 IgE 190 kU/I IgG 2.28 IgM 0.09 CD3 34 CD4 32 CD45RA 4 CD45R0 97 CD8 24 CD16 43 CD19/CD20 2 DR 27 PHA 5.7 MFT - // ID R561C(1),R737H(1); standard; MUTATION; Accession R0009 Systematic name Allele 1: g.1793C>T, c.1793C>T, p.R561C Systematic name Allele 2: g.2322G>A, c.2322G>A, p.R737H Original code OS7 ref [1]; P37 ref [2] Description Allele 1; missense mutation in the exon 2 leading to amino Description acid change in RAG-2 interaction domain Description Allele 2; missense mutation in the exon 2 leading to amino Description acid change in active core domain Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9630231 RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S., RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Spanopoulou, E. RefTitle Partial V(D)J recombination activity leads to Omenn RefTitle syndrome RefLoc Cell 93:885-96 (1998) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0010 DB CrossRef OMIM; 179615.0011 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1793 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1793 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561 Feature /change: R -> C FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2322 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2322 Feature /codon: cgt -> cat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 737 Feature /change: R -> H Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1 month WBC 26.4 Total lymphoc 9.5 Eosin 5.2 IgA 0.62 IgE 45000 kU/I IgG 7.55 maternally-derived IgM 0.33 CD3 54 CD4 48 CD45RA n.d. CD45R0 n.d. CD8 17 CD16 n.d. CD19/CD20 2 DR 74 PHA 2.5 MFT - // ID R561H(2),R561H(2); standard; MUTATION; Accession R0050 Systematic name Allele 1 and 2: g.7974G>A, c.1682G>A, r.1682g>a, Systematic name p.Arg561His Original code P27 Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change Date 24-Feb-2005 (Rel. 1, Created) Date 24-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7974 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7974 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> H Diagnosis T and B cell-negative severe combined immunodeficiency // ID R561H(3),R561H(3); standard; MUTATION; Accession R0058 Systematic name Allele 1 and 2: g.7974G>A, c.1682G>A, r.1682g>a, Systematic name p.Arg561His Original code P1 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] Reference RefNumber [1] RefCrossRef PUBMED; 16211094 RefAuthors Ehl, S., Schwarz, K., Enders, A., Duffner, U., Pannicke, RefAuthors U., Kuhr, J., Mascart, F., Schmitt-Graeff, A., Niemeyer, RefAuthors C., Fisch, P. RefTitle A variant of SCID with specific immune responses and RefTitle predominance of gamma delta T cells. RefLoc J Clin Invest:3140-3148 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7974 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7974 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> H Symptoms Infections: Symptoms Failure to thrive; Pneumonia; Symptoms Others: Symptoms perforated otitis media, bronchopneumonia, oral and genital candida infections, Coombs-positive anemia, neutropenia, lymphopenia, thymus reduced in size Sex XX Ethnic origin Turkey Total lymphoc 0.4-0.83 Eosinophils 0.420 IgA 1.4 IgG 16.7 IgM 2.6 Comment Diagnosis: SCID with specific immune responses // ID A565D(1),A565D(1); standard; MUTATION; Accession R0057 Systematic name Allele 1 and 2: g.7986G>A, c.1694G>A, r.1694g>a, Systematic name p.Ala565Asp Original code Patient Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] Reference RefNumber [1] RefCrossRef PUBMED; 16211094 RefAuthors Ehl, S., Schwarz, K., Enders, A., Duffner, U., Pannicke, RefAuthors U., Kuhr, J., Mascart, F., Schmitt-Graeff, A., Niemeyer, RefAuthors C., Fisch, P. RefTitle A variant of SCID with specific immune responses and RefTitle predominance of gamma delta T cells. RefLoc J Clin Invest:3140-3148 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7986 Feature /change: c -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1806 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 565 Feature /change: A -> D FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7986 Feature /change: c -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1806 Feature /codon: gct -> gat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 565 Feature /change: A -> D Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Symptoms Others: Symptoms upper respiratory infections, otitis media, sepsis due to Pseudomonas aeruginosa, moderate anemia, markedly elevated level of soluble interleukin-2 receptor, absence of peripheral B cells, marked increase of CD4+ and CD8+,lymphocytic infiltration in the upper dermis, occasional eosinophils and destruction of epidermal-dermal junction Age 0,1 Ethnic origin Japan Eosinophils 21,8 IgA <0.01 IgE <2 IgG 1.48 IgM 0.02 // ID Y589X(1),Y589X(1); standard; MUTATION; Accession R0026 Systematic name Allele 1 and 2: g.1879C>G, c.1879C>G, p.Y589X Original code P2 Description Allele 1 and 2; nonsense mutation in the exon 2 leading Description to stop codon and premature termination Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1879 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1879 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 589 Feature /change: Y -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 1879 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1879 Feature /codon: tac -> tag; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 589 Feature /change: Y -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive; Pneumonia; Protracted diarrhea Age at onset 2 months WBC 2.1 Total lymphoc 0.12 Eosin 0 IgA 0.31 IgE n.d. IgG 1.69 IgM 0.01 CD3 <1 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 80 CD19/CD20 <1 DR 17 PHA n.d. MFT n.d. // ID Y589X(2),Y589X(2); standard; MUTATION; Accession R0069 Systematic name Allele 1 and 2: g.8059C>G, c.1767C>G, r.1767c>g, p.Tyr589X Original code P52 Description Allele 1 and 2: A point mutation in the exon 2 leading to a Description premature stop codon Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8059 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1879 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 589 Feature /change: Y -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8059 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1879 Feature /codon: tac -> tag; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 589 Feature /change: Y -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Infections: Symptoms Failure to thrive; Hepatomegaly; Age 0.2 IgA <0.07 IgG 1.4 IgM <0.1 CD4 1 CD8 28 // ID C602W(1),C602W(1); standard; MUTATION; Accession R0079 Systematic name Allele 1 and 2: g.8098T>G, c.1806T>G, r.1806u>g, Systematic name p.Cys602Trp Original code P64 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8098 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1918 Feature /codon: tgt -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 602 Feature /change: C -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8098 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1918 Feature /codon: tgt -> tgg; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 602 Feature /change: C -> W Diagnosis T and B cell-negative severe combined immunodeficiency // ID M605I(1),R561C(4); standard; MUTATION; Accession R0095 Systematic name Allele 1: g.8107G>C, c.1815G>C, r.1815g>c, p.Met605Ile Systematic name Allele 2: g.7973C>T, c.1681C>T, r.1681c>u, p.Arg561Cys Original code PID4 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8107 Feature /change: g -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1927 Feature /codon: atg -> atc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 605 Feature /change: M -> I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7973 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1793 Feature /codon: cgc -> tgc; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 561 Feature /change: R -> C Diagnosis T and B cell-negative severe combined immunodeficiency Age 2 months Sex XY Ethnic origin Caucasoid; Italia Family history Inherited // ID #K621X630(1),R410Q(2); standard; MUTATION; ,INV Accession R0097 Systematic name Allele 1: g.8155delG, c.1863delG, r.1863delg, p.Ala622fsX9 Systematic name Allele 2: g.7521G>A, c.1229G>A, r.1229g>a, p.Arg410Gln Original code PID20 Description Allele 1: A frame shift deletion mutation in the exon 2 Description leading to a premature stop codon Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change in the INV domain Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 8155 Feature /change: -g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1975 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 621 Feature /change: K -> KQSVFHSQSX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 7521 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1341 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 410 Feature /change: R -> Q Feature /domain: INV Diagnosis T and B cell-negative severe combined immunodeficiency Age 1,8 Sex XX Ethnic origin Italia Family history Not known // ID R624H(1),R897X(1); standard; MUTATION; Accession R0003 Systematic name Allele 1: g.1983G>A, c.1983G>A, p.R624H Systematic name Allele 2: g.2801C>T, c.2801C>T, p.R897X Original code P4 ref [1]; P12 ref [2] Description Allele 1; missense mutation in the exon 2 Description Allele 2; nonsense mutation in the exon 2 leading to stop Description codon and premature termination Date 19-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8810255 RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge, RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R. RefTitle RAG mutations in human B cell-negative SCID RefLoc Science 274:97-99 (1996) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef DB CrossRef SWISS-PROT; P15918:[624_624] FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 1983 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 1983 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 624 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2801 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2801 Feature /codon: cga -> tga; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 897 Feature /change: R -> X Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Pneumonia; Lymphoadenopathy Age at onset n.a. Sex XY Family history inherited WBC 6.0 Total lymphoc 2.1 Eosin 0.3 IgA 0.32 IgE n.d. IgG 6.18 maternally-derived IgM 0.51 CD3 15 CD4 4 CD45RA n.d. CD45R0 n.d. CD8 16 CD16 67 CD19/CD20 <1 DR n.d. PHA 29 MFT + // ID R624H(2),K992E(1); standard; MUTATION; Accession R0048 Systematic name Allele 1: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His Systematic name Allele 2: g.9266A>G, c.2974A>G, r.2974a>g, p.Lys992Glu Original code OM7 Description Allele 1: a point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: a point mutation in the exon 2 leading to an Description amino acid change Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8163 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 624 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9266 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3086 Feature /codon: aaa -> gaa; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 992 Feature /change: K -> E Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age 5 month Sex XX Family history Inherited Total lymphoc 1500 Eosinophils 500 IgE >1000 CD19 0 // ID #P649X671(1),?; standard; MUTATION; Accession R0070 Systematic name Allele 1: g.8239delT, c.1947delT, r.1947delu, p.Asn650fsX22 Original code P53 Description Allele 1: A frame shift deletion mutation in the exon 2 Description leading to a premature stop codon Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 8239 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2059 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 649 Feature /change: P -> PTLNCVASHC ALCWQMSLTT RRX Diagnosis Leaky severe combined immunodeficiency Symptoms Others: Symptoms generalised oedema Age 0.5 WBC 8.8 IgA 0.99 IgE 3.65 IgG 10.2 IgM <0.17 CD3 6 CD4 5 CD8 2 Comment Leaky T-B-SCID with Guillain-Barre Syndrome // ID #H668X671(1),#H668X671(1); standard; MUTATION; Accession R0056 Systematic name Allele 1 and 2: g.8294delC, c.2002delC, r.2002delc, Systematic name p.His668fsX4 Original code Patient Description Allele 1 and 2: A frame shift deletion mutation in the exon Description 2 leading to a premature stop codon Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15845893 RefAuthors Wada, T., Toma, T., Okamoto, H., Kasahara, Y., Koizumi, RefAuthors S., Agematsu, K., Kimura, H., Shimada, A., Hayashi, Y., RefAuthors Kato, M., Yachie, A. RefTitle Oligoclonal expansion of T lymphocytes with multiple RefTitle second-site mutations leads to omenn syndrome in a patient RefTitle with RAG1-deficient severe combined immunodeficiency. RefLoc Blood:2099-2101 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 8294 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2114 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 668 Feature /change: H -> TRRX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 8294 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2114 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 668 Feature /change: H -> TRRX Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Symptoms Others: Symptoms upper respiratory infections, otitis media, sepsis due to Pseudomonas aeruginosa, moderate anemia, markedly elevated level of soluble interleukin-2 receptor, absence of peripheral B cells, marked increase of CD4+ and CD8+,lymphocytic infiltration in the upper dermis, occasional eosinophils and destruction of epidermal-dermal junction Age 0,1 Ethnic origin Japan Eosinophils 21,8 IgA <0.01 IgE <2 IgG 1.48 IgM 0.02 // ID E669G(1),C900X(1); standard; MUTATION; Accession R0033 Systematic name Allele 1: g.2118A>G, c.2118A>G, p.E669G Systematic name Allele 2: g.2812C>A, c.2812C>A, p.C900X Original code P32 Description Allele 1; missense mutation in the exon 2 Description Allele 2; nonsense mutation in the exon 2 leading Description to stop codon and premature termination Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2118 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2118 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 669 Feature /change: E -> G FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2812 Feature /change: c -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2812 Feature /codon: tgc -> tga; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 900 Feature /change: C -> X Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted Symptoms diarrhea Age at onset 3 months WBC 20.5 Total lymphoc 15.17 Eosin 2.46 IgA <1 IgE 817 kU/I IgG <1.3 IgM 1.5 CD3 93 CD4 11 CD45RA n.d. CD45R0 n.d. CD8 85 CD16 11 CD19/CD20 <1 DR n.d. PHA 110 MFT - // ID #L690X708(1),#L690X708(1); standard; MUTATION; Accession R0017 Systematic name Allele 1 and 2: g.2182_2189delAATGCTTG, Systematic name c.2182_2189delAATGCTTG, p.L690fsX708 Original code P6 Description Allele 1 and 2; frameshift deletion in the exon 2 leading Description to frameshift and premature termination Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 2182..2189 Feature /change: -aatgcttg Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 2182..2189 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 690..693 Feature /change: LMLE -> LAGRHSPDFQ VHLQGHRLX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG1: 2182..2189 Feature /change: -aatgcttg Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; g131827; HSRAG1: 2182..2189 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 690..693 Feature /change: LMLE -> LAGRHSPDFQ VHLQGHRLX Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Hepatomegaly; Protracted diarrhea Age at onset 1 month WBC 9.0 Total lymphoc 0.04 Eosin <.05 IgA <0.3 IgE n.d. IgG 3 IgM <0.4 CD3 <1 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 73 CD19/CD20 1 DR 10 PHA 1 MFT n.d. // ID G707R(1),#T173X200(7); standard; MUTATION; Accession R0104 Systematic name Allele 1: g.8411G>C, c.2119G>C, r.2119g>c, p.Gly707Arg Systematic name Allele 2: g.6811delT, c.519delT, r.519delu, p.Glu174fsX27 Original code PID39 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A frame shift deletion mutation in the exon 2 Description leading to a premature stop codon Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8411 Feature /change: g -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2231 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 707 Feature /change: G -> R FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 6811 Feature /change: -t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG1_HUMAN: 173 Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX Diagnosis Leaky severe combined immunodeficiency Age 1,1 Sex XX Ethnic origin Caucasoid; Italia Family history Not known // ID G709D(1),G709D(1); standard; MUTATION; Accession R0068 Systematic name Allele 1 and 2: g.8418G>A, c.2126G>A, r.2126g>a, Systematic name p.Gly709Asp Original code P51 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8418 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2238 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 709 Feature /change: G -> D FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8418 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2238 Feature /codon: ggc -> gac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 709 Feature /change: G -> D Diagnosis Omenn Syndrome Age 0.25 WBC 13.9 IgA <0.24 IgE 25 IgG <1.4 IgM <0.17 CD3 21.1 CD4 20.5 CD8 21.4 // ID E722K(1),E774X(1); standard; MUTATION; Accession R0001 Systematic name Allele 1: g.2276G>A, c.2276G>A, p.E722K Systematic name Allele 2: g.2432G>T, c.2432G>T, p.E774X Original code P1 ref [1]; P3 ref [2] Description Allele 1; missense mutation in the exon 2 Description Allele 2; nonsense mutation in the exon 2 leading to Description stop codon and premature termination Date 19-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8810255 RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge, RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R. RefTitle RAG mutations in human B cell-negative SCID RefLoc Science 274:97-99 (1996) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0001 DB CrossRef OMIM; 179615.0002 DB CrossRef DB CrossRef SWISS-PROT; P15918:[722_722] FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2276 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722 Feature /change: E -> K FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2432 Feature /change: g -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2432 Feature /codon: gaa -> taa; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 774 Feature /change: E -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive; Pneumonia Age at onset 1.5 month Sex XY Family history inherited Parents consanguineous WBC 3.5 Total lymphoc 0.35 Eosin 0.17 IgA <0.05 IgE n.d. IgG subst. IgM 0.15 CD3 2 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 90 CD19/CD20 <1 DR n.d. PHA 5 MFT - // ID Y728H(1),R624H(4); standard; MUTATION; ZFB, Accession R0102 Systematic name Allele 1: g.8474T>C, c.2182T>C, r.2182u>c, p.Tyr728His Systematic name Allele 2: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His Original code PID51 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change in the ZFB domain Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 28-Feb-2019 (Rel. 1, Created) Date 28-Feb-2019 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Feb-2019) to RAG1base. RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492; RefLoc e-mail di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8474 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2294 Feature /codon: tac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 728 Feature /change: Y -> H Feature /domain: ZFB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8163 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983 Feature /codon: cgt -> cat; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 624 Feature /change: R -> H Diagnosis Leaky severe combined immunodeficiency Age 10 Sex XY Ethnic origin Caucasoid; Italia Family history Inherited // ID L732F(1),L732F(1); standard; MUTATION; Accession R0042 Systematic name Allele 1 and 2: g.8486C>T, c.2194C>T, r.2194c>u, Systematic name p.Leu732Phe Original code OM1 Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8486 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2306 Feature /codon: ctt -> ttt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 732 Feature /change: L -> F FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8486 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2306 Feature /codon: ctt -> ttt; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 732 Feature /change: L -> F Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Sex XX Family history Inherited Parents consanguineous Total lymphoc 8160 Eosinophils 952 IgE 215 CD19 0 // ID R776Q(1),#A979-1(1); standard; MUTATION; Accession R0083 Systematic name Allele 1: g.8619G>A, c.2327G>A, r.2327g>a, Systematic name p.Arg776Gln Systematic name Allele 2: g.9227_9229delGCC, c.2935_2937delGCC, Systematic name r.2935_2937delgcc, p.Ala979del Original code Case1 Description Allele 1: A point mutation in the exon 2 leading to Description an amino acid change Description Allele 2: An inframe deletion in the exon 2 leading Description to an amino acid change Date 16-Jun-2010 (Rel. 1, Created) Date 16-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19458910 RefAuthors Karaca, N. E., Aksu, G., Genel, F., Gulez, N., Can, S., RefAuthors Aydinok, Y., Aksoylar, S., Karaca, E., Altuglu, I., RefAuthors Kutukculer, N. RefTitle Diverse phenotypic and genotypic presentation of RAG1 RefTitle mutations in two cases with SCID. RefLoc Clin Exp Med:339-342 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8619 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2439 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 776 Feature /change: R -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG1_DNA: 9227..9229 Feature /change: -gcc Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: inframe deletion Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3047..3049 Feature aa; 6 Feature /rnalink: 5 Feature /name: deletion; inframe Feature /loc: SWISS-PROT: RAG1_HUMAN: 979 Feature /change: -A Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Infections: Symptoms Failure to thrive; Hepatomegaly; Protracted diarrhea; Symptoms Others: Symptoms BCG adenitis Age 1.1 Sex XX Ethnic origin Turkey IgA <0.06 IgG <1.54 IgM <0.16 // ID R778G(1),K992R(1); standard; MUTATION; Accession R0077 Systematic name Allele 1: g.8624C>G, c.2332C>G, r.2332c>g, p.Arg778Gly Systematic name Allele 2: g.9267A>G, c.2975A>G, r.2975a>g, p.Lys992Arg Original code P62 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8624 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444 Feature /codon: cgg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 778 Feature /change: R -> G FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9267 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3087 Feature /codon: aaa -> aga; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 992 Feature /change: K -> R Diagnosis Omenn Syndrome // ID R778Q(1),R975W(1); standard; MUTATION; ,BV Accession R0089 Systematic name Allele 1: g.8625G>A, c.2333G>A, r.2333g>a, p.Arg778Gln Systematic name Allele 2: g.9215C>T, c.2923C>T, r.2923c>u, p.Arg975Trp Original code P.2 Description Allele 1: A point mutation in the exon 2 leading to an Description amino acid change Description Allele 2: A point mutation in the exon 2 leading to an Description amino acid change in the BV domain Date 29-Jul-2010 (Rel. 1, Created) Date 29-Jul-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18463379 RefAuthors Schuetz, C., Huck, K., Gudowius, S., Megahed, M., Feyen, RefAuthors O., Hubner, B., Schneider, D. T., Manfras, B., Pannicke, RefAuthors U., Willemze, R., Knuchel, R., Gobel, U., Schulz, A., RefAuthors Borkhardt, A., Friedrich, W., Schwarz, K., Niehues, T. RefTitle An immunodeficiency disease with RAG mutations and RefTitle granulomas. RefLoc N Engl J Med:2030-2038 (2008) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8625 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2445 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 778 Feature /change: R -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9215 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3035 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 975 Feature /change: R -> W Feature /domain: BV Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Skin lesions; Recurrent broncho-pneumonia; Severe Symptoms varicella infection in infancy; Vaccine-induced measles; Age 7.8 Sex XX IgA 36-135 mg/dl IgG 500-1360 mg/dl IgM 72-190 mg/dl Comment Patient had received stem-cell transplantation from a Comment matched unrelated donor. // ID R778W(1),R778W(1); standard; MUTATION; Accession R0073 Systematic name Allele 1 and 2: g.8624C>T, c.2332C>T, r.2332c>u, Systematic name p.Arg778Trp Original code P58 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 27-May-2008 (Rel. 1, Created) Date 27-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8624 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 778 Feature /change: R -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8624 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 778 Feature /change: R -> W Diagnosis T and B cell-negative severe combined immunodeficiency Age 0 Sex XX // ID R841W(2),R841W(2); standard; MUTATION; BIV,BIV Accession R0061 Systematic name Allele 1 and 2: g.8813C>T, c.2521C>T, r.2521c>u, Systematic name p.Arg841Trp Original code P3 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change in the BIV domain Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16276422 RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S., RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L., RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L., RefAuthors Casanova, J. L., Fischer, A., Le Deist, F. RefTitle A novel immunodeficiency associated with hypomorphic RAG1 RefTitle mutations and CMV infection. RefLoc J Clin Invest:3291-3299 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV Symptoms Infections: Symptoms Pneumonia; Symptoms Others: Symptoms severe persistent CMV infection, anemia, hepatosplenomegaly Age 0,5 Sex XY Ethnic origin Caucasoid; Lebanon Total lymphoc 3-5 Eosinophils 0.06-0.1 IgA 0.38-0.48 IgG 6.5-12.2 IgM 0.07-0.85 CD3 68-81 CD4 6-9 CD8 4-10 CD19 4 Comment Diagnosis: immunodeficiency with gamma-delta-T cell Comment expansion and autoimmunity // ID R841W(3),R841W(3); standard; MUTATION; BIV,BIV Accession R0085 Systematic name Allele 1 and 2: g.8813C>T, c.2521C>T, r.2521c>u, Systematic name p.Arg841Trp Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change in the BIV domain Date 16-Jun-2010 (Rel. 1, Created) Date 16-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19246248 RefAuthors McCusker, C., Hotte, S., Le Deist, F., Hirschfeld, A. F., RefAuthors Mitchell, D., Nguyen, V. H., Gagnon, R., Mazer, B., RefAuthors Turvey, S. E., Jabado, N. RefTitle Relative CD4 lymphopenia and a skewed memory phenotype are RefTitle the main immunologic abnormalities in a child with omenn RefTitle syndrome due to homozygous RAG1-C2633T hypomorphic RefTitle mutation. RefLoc Clin Immunol:447-455 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 841 Feature /change: R -> W Feature /domain: BIV Diagnosis Omenn Syndrome Symptoms Others: Symptoms alopecia Age 0.9 Sex XX Ethnic origin Canada Relative mother heterozygous carrier of 2633 c>t and homozygous of Relative SNP 2571 a/g Relative father heterozygous carrier of 2633 c>t and SNP 2571 a/g Total lymphoc 3,300 Eosinophils 1,500 IgA 0.013 IgG 0.0989 IgM 0.0064 Comment SNP at 2571 a/g // ID N855I(1),N855I(1); standard; MUTATION; Accession R0029 Systematic name Allele 1 and 2: g.2676A>T, c.2676A>T, p.N855I Original code P11 Description Allele 1 and 2; missense mutation in the exon 2 Date 21-Mar-2000 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2676 Feature /change: a -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2676 Feature /codon: aac -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 855 Feature /change: N -> I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2676 Feature /change: a -> t Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2676 Feature /codon: aac -> atc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 855 Feature /change: N -> I Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Protracted diarrhea Age at onset 2 weeks WBC 3.6 Total lymphoc 0.55 Eosin 0.18 IgA <0.05 IgE <5 kU/I IgG 1.1 IgM <0.05 CD3 7 CD4 n.a. CD45RA n.d. CD45R0 n.d. CD8 31 CD16 75 CD19/CD20 1 DR 25 PHA 0.2 MFT + // ID L872X(1),L872X(1); standard; MUTATION; Accession R0010 Systematic name Allele 1 and 2: g.2727T>A, c.2727T>A, p.L872X Original code P5 Description Allele 1 and 2; nonsense mutation in the exon 2 Description leading to stop codon and premature termination Date 24-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2727 Feature /change: t -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872 Feature /change: L -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2727 Feature /change: t -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727 Feature /codon: tta -> taa; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872 Feature /change: L -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive Age at onset 2 months WBC n.a. Total lymphoc n.a. Eosin n.a. IgA n.a. IgE n.a. IgG n.a. IgM <0.01 CD3 <5 CD4 n.d. CD45RA n.d. CD45R0 n.d. CD8 n.d. CD16 n.d. CD19/CD20 <5 DR n.d. PHA 1 MFT - // ID W896R(1),W896R(1); standard; MUTATION; Accession R0055 Systematic name Allele 1 and 2: g.8978T>C, c.2686T>C, r.2686u>c, Systematic name p.Trp896Arg Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change Date 18-Jan-2006 (Rel. 1, Created) Date 18-Jan-2006 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16061569 RefAuthors Zhang, J., Quintal, L., Atkinson, A., Williams, B., RefAuthors Grunebaum, E., Roifman, C. M. RefTitle Novel RAG1 mutation in a case of severe combined RefTitle immunodeficiency. RefLoc Pediatrics 116:e445-449 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8978 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2798 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 896 Feature /change: W -> R FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 8978 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2798 Feature /codon: tgg -> cgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 896 Feature /change: W -> R Diagnosis Leaky severe combined immunodeficiency Symptoms Others: Symptoms pneumonitis Age 4,5 mo Sex XX Ethnic origin Pakistani Family history Inherited Comment Patient died shortly after BMT as a result of overwhelming Comment cytomegalovirus infection // ID Y938X(1),Y938X(1); standard; MUTATION; Accession R0002 Systematic name Allele 1 and 2: g.2926T>G, c.2926T>G, p.Y938X Original code P2 ref [1]; P14 ref [2] Description Allele 1 and 2; nonsense mutation in the exon 2 leading Description to stop codon and premature termination Date 19-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8810255 RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge, RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R. RefTitle RAG mutations in human B cell-negative SCID RefLoc Science 274:97-99 (1996) RefNumber [2] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) DB CrossRef OMIM; 179615.0003 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2926 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2926 Feature /codon: tat -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 938 Feature /change: Y -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2926 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2926 Feature /codon: tat -> tag; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 938 Feature /change: Y -> X Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Erythrodermia; Skin rash; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted Symptoms diarrhea Age at onset 1 month Sex XX Family history inherited Parents consanguineous WBC 5.0 Total lymphoc 1.5 Eosin 2.0 IgA <0.05 IgE 2.7 kU/I IgG <2.5 IgM <0.05 CD3 15 CD4 4 CD45RA n.d. CD45R0 n.d. CD8 10 CD16 67 CD19/CD20 <1 DR n.d. PHA 28 MFT + // ID I956T(1),I956T(1); standard; MUTATION; Accession R0067 Systematic name Allele 1 and 2: g.9159T>C, c.2867T>C, r.2867u>c, Systematic name p.Ile956Thr Original code P50 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16960852 RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa, RefAuthors A. RefTitle RAG-dependent primary immunodeficiencies. RefLoc Hum Mutat:1174-1184 (2006) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9159 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2979 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 956 Feature /change: I -> T FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9159 Feature /change: t -> c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2979 Feature /codon: att -> act; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 956 Feature /change: I -> T Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted Symptoms diarrhea; Symptoms Others: Symptoms Recurrent URTI, Generalised oedema Age 0.1 WBC 33.5 IgA 0.13 IgG 8.46 IgM 2.13 CD3 12.2 CD4 5.96 CD8 6.82 // ID W959X(1),W959X(1); standard; MUTATION; Accession R0016 Systematic name Allele 1 and 2: g.2988G>A, c.2988G>A, p.W959X Original code P13 Description Allele 1 and 2; nonsense mutation leading to stop codon Description and premature termination Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11133745 RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler, RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K. RefTitle V(D)J recombination defects in lymphocytes due to RAG RefTitle mutations: severe immunodeficiency with a spectrum of RefTitle clinical presentations RefLoc Blood 97:81-88 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG1: 2988 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2988 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 959 Feature /change: W -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG1: 2988 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M29474; g131827; HSRAG1: 2988 Feature /codon: tgg -> tag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 959 Feature /change: W -> X Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Skin rash; Pneumonia; Lymphoadenopathy Age at onset 2 weeks WBC 15 Total lymphoc 10.5 Eosin 0.15 IgA 0.18 IgE n.d. IgG 40 IgM 6.41 CD3 15 CD4 10 CD45RA <5 CD45R0 >95 CD8 11 CD16 19 CD19/CD20 <1 DR 61 PHA 7 MFT + // ID R973H(1),R973H(1); standard; MUTATION; Accession R0043 Systematic name Allele 1 and 2: g.9210G>A, c.2918G>A, r.2918g>a, Systematic name p.Arg973His Original code OM2 Description Allele 1 and 2: a point mutation in the exon 2 leading to Description an amino acid change Date 23-Feb-2005 (Rel. 1, Created) Date 23-Feb-2005 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11313270 RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N., RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay, RefAuthors J. P. RefTitle Identical mutations in RAG1 or RAG2 genes leading to RefTitle defective V(D)J recombinase activity can cause either T-B- RefTitle severe combined immune deficiency or omenn syndrome. RefLoc Blood 97:2772-2776 (2001) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9210 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3030 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 973 Feature /change: R -> H FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9210 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3030 Feature /codon: cgc -> cac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 973 Feature /change: R -> H Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea; Symptoms Others: Symptoms eosinophilia Age at onset 4 month Sex XX Family history inherited Parents consanguineous Total lymphoc 9500 Eosinophils 1390 IgE >3000 // ID Q981P(1),Q981P(1); standard; MUTATION; Accession R0060 Systematic name Allele 1 and 2: g.9234A>C, c.2942A>C, r.2942a>c, Systematic name p.Gln981Pro Original code P2 Description Allele 1 and 2: A point mutation in the exon 2 leading to Description an amino acid change Date 26-May-2008 (Rel. 1, Created) Date 26-May-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16276422 RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S., RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L., RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L., RefAuthors Casanova, J. L., Fischer, A., Le Deist, F. RefTitle A novel immunodeficiency associated with hypomorphic RAG1 RefTitle mutations and CMV infection. RefLoc J Clin Invest:3291-3299 (2005) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9234 Feature /change: a -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3054 Feature /codon: cag -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 981 Feature /change: Q -> P FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG1_DNA: 9234 Feature /change: a -> c Feature /genomic_region: exon; 2 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3054 Feature /codon: cag -> ccg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG1_HUMAN: 981 Feature /change: Q -> P Symptoms Infections: Symptoms Pneumonia; Protracted diarrhea; Symptoms Others: Symptoms severe persistent CMV infection, anemia, neutropenia Age 0,5 Sex XX Ethnic origin Caucasoid; Morocco Total lymphoc 3-5 Eosinophils 0.06-0.1 IgA 0.3-1.2 IgG 7-12.4 IgM 2.4-4.26 CD3 47-78 CD4 5-21 CD8 6-16 CD19 3-51 Comment Diagnosis: immunodeficiency with gamma-delta-T cell Comment expansion and autoimmunity //