Database RAG2base Version 3.3 File rag2pub.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/RAG2base/ FTP ftp://protein.uta.fi/pub/rag2pub.dat IDR factfile http://structure.bmc.lu.se/idbase/xml/idr/ff/FF3.xml Gene RAG2 Disease Autosomal recessive RAG2 immunodeficiency OMIM 179616 GDB 125186 Sequence EMBL:M94633; UniProt:P55895 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: RAG1base // ID M1V(1),#H468X483(1); standard; MUTATION; I, Accession S0046 Systematic name Allele 1: g.5069A>G, c.1A>G, r.1a>g, p.Met1Val Systematic name Allele 2: g.6471_6474delATCT, c.1403_1406delATCT, Systematic name r.1403_1406delaucu, p.His468fsX16 Original code PID3 Description Allele 1: A point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: A frame shift deletion mutation in the exon 1 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 RAG2base. RefLoc DI MATTEO Gigliola; Department of Systems Medicine - RefLoc University of Rome Tor Vergata - Via Montpellier,1 - 00133; RefLoc Tel +39 0672596492; Fax +39 0672596822; e-mail RefLoc di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5069 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1202 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 1 Feature /change: M -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG2_DNA: 6471..6474 Feature /change: -atct Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2604..2607 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 468..469 Feature /change: HL -> RQQEATSITA MSMWRX Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Others: Symptoms not available Age 5 months Sex XX Ethnic origin Caucasoid; Italy Family history Inherited // ID Q16X(1),Q16X(1); standard; MUTATION; I,I Accession S0025 Systematic name Allele 1 and 2: g.5114C>T, c.46C>T, r.46c>u, p.Gln16X Original code RAG-SCID 6 Description Allele 1 and 2: a point mutation in the exon 1 leading to a Description 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; 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: RAG2_DNA: 5114 Feature /change: c -> t Feature /genomic_region: exon; 1ID M1V(1),#H468X483(1); standard; MUTATION; I, Accession S0046 Systematic name Allele 1: g.5069A>G, c.1A>G, r.1a>g, p.Met1Val Systematic name Allele 2: g.6471_6474delATCT, c.1403_1406delATCT, Systematic name r.1403_1406delaucu, p.His468fsX16 Original code PID3 Description Allele 1: A point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: A frame shift deletion mutation in the exon 1 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 RAG2base. RefLoc DI MATTEO Gigliola; Department of Systems Medicine - RefLoc University of Rome Tor Vergata - Via Montpellier,1 - 00133; RefLoc Tel +39 0672596492; Fax +39 0672596822; e-mail RefLoc di.matteo@med.uniroma2.it FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5069 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1202 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 1 Feature /change: M -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG2_DNA: 6471..6474 Feature /change: -atct Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2604..2607 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 468..469 Feature /change: HL -> RQQEATSITA MSMWRX Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Others: Symptoms not available Age 5 months Sex XX Ethnic origin Caucasoid; Italy Family history Inherited // Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1247 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 16 Feature /change: Q -> X Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5114 Feature /change: c -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1247 Feature /codon: cag -> tag; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 16 Feature /change: Q -> X Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Comment Seemingly homozygous mutation, but deletion of the other Comment allele was not ruled out. // ID G35V(1),G35V(1); standard; MUTATION; Accession S0016 Systematic name Allele 1 and 2: g.1305G>T, c.1305G>T, p.G35V Original code P10 Description Allele 1 and 2; missense mutation in the exon 3 Date 21-Mar-2000 (Rel. 1, Created) Date 21-Mar-2000 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10777560 RefAuthors Corneo, B., Moshous, D., Callebaut, I., de Chasseval, R., RefAuthors Fischer, A., de Villartay, J. P. RefTitle Three-dimensional clustering of human RAG2 gene mutations RefTitle in severe combined immune deficiency RefLoc J. Biol. Chem. 275:12672-12675 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1305 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 35 Feature /change: G -> V FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1305 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 35 Feature /change: G -> V Diagnosis T and B cell-negative severe combined immunodeficiency // ID G35V(2),G35V(2); standard; MUTATION; I,I Accession S0031 Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val Original code Patient 8 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Ethnic origin Arab Family history Inherited WBC 11,230 Total lymphoc 1850 IgA 7 IgG 120 IgM 12 CD3 29 CD4 20 CD8 7 CD16 20 CD19 7 DR 35 // ID G35V(3),G35V(3); standard; MUTATION; I,I Accession S0033 Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val Original code Patient 12 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Ethnic origin Arab Family history Inherited Parents consanguineous WBC 7200 Total lymphoc 576 IgA 7 IgG 380 IgM 12 CD3 19 CD4 19 CD8 2 CD16 75 CD19 0 DR nd // ID G35V(4),G35V(4); standard; MUTATION; I,I Accession S0034 Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val Original code Patient 13 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Ethnic origin Arab Family history Inherited Parents consanguineous WBC 5800 Total lymphoc 290 IgA na IgG na IgM na CD3 3 CD4 2 CD8 4 CD16 55 CD19 0 DR nd // ID G35V(5),G35V(5); standard; MUTATION; I,I Accession S0039 Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val Original code P54 Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change in the I domain Date 27-May-2008 (Rel. 1, Created) Date 27-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: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5172 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305 Feature /codon: ggc -> gtc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 35 Feature /change: G -> V Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Infections: Symptoms Failure to thrive; Skin rash; Age 3 months IgA 0.06 IgG 2.44 IgM 0.16 CD16 87 // ID R39G(1),R229Q(3); standard; MUTATION; Accession S0017 Systematic name Allele 1: g.1316A>G, c.1316A>G, p.R39G Systematic name Allele 2: g.1887G>A, c.1887G>A, p.R229Q Original code P41 Description Allele 1; missense mutation in the exon 3 Description Allele 2; missense mutation in the exon 3 Date 21-Mar-2000 (Rel. 1, Created) Date 26-Jul-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10777560 RefAuthors Corneo, B., Moshous, D., Callebaut, I., de Chasseval, R., RefAuthors Fischer, A., de Villartay, J. P. RefTitle Three-dimensional clustering of human RAG2 gene mutations RefTitle in severe combined immune deficiency RefLoc J. Biol. Chem. 275:12672-12675 (2000) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1316 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1316 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 39 Feature /change: R -> G FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1887 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> Q Diagnosis T and B cell-negative severe combined immunodeficiency // ID R39G(2a),R229Q(4a); standard; MUTATION; I,I Accession S0018 Systematic name Allele 1: g.5183A>G, c.115A>G, r.115a>g, p.Arg39Gly Systematic name Allele 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln Original code OM9 Description Allele 1: a point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: a point mutation in the exon 1 leading to an Description amino acid change 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) RefNumber [2] RefCrossRef PUBMED; 2010548 RefAuthors de Saint-Basile, G., Le Deist, F., de Villartay, J. P., RefAuthors Cerf-Bensussan, N., Journet, O., Brousse, N., Griscelli, RefAuthors C., Fischer, A. RefTitle Restricted heterogeneity of T lymphocytes in combined RefTitle immunodeficiency with hypereosinophilia (omenn's RefTitle syndrome). RefLoc J Clin Invest 87:1352-1359 (1991) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5183 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1316 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 39 Feature /change: R -> G Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5754 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> Q Feature /domain: I Diagnosis Omenn Syndrome Sex XY Family history Inherited Relative RAG2base; S0019 brother Total lymphoc 10000 Eosinophils nd IgE nd CD19 0 // ID R39G(2b),R229Q(4b); standard; MUTATION; I,I Accession S0019 Systematic name Allele 1: g.5183A>G, c.115A>G, r.115a>g, p.Arg39Gly Systematic name Allele 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln Original code P42 Description Allele 1: a point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: a point mutation in the exon 1 leading to an Description amino acid change 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) RefNumber [2] RefCrossRef PUBMED; 2010548 RefAuthors de Saint-Basile, G., Le Deist, F., de Villartay, J. P., RefAuthors Cerf-Bensussan, N., Journet, O., Brousse, N., Griscelli, RefAuthors C., Fischer, A. RefTitle Restricted heterogeneity of T lymphocytes in combined RefTitle immunodeficiency with hypereosinophilia (omenn's RefTitle syndrome). RefLoc J Clin Invest 87:1352-1359 (1991) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5183 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1316 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 39 Feature /change: R -> G Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5754 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> Q Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Sex XY Family history Inherited Relative RAG2base; S0018 brother // ID C41W(1),M245R(1); standard; MUTATION; Accession S0004 Systematic name Allele 1: g.1324C>G, c.1324C>G, p.C41W Systematic name Allele 2: g.2055T>G, c.2055T>G, p.M285R Original code OS1 ref [2]; P34 ref [3] Description Allele 1 and 2; missense mutation in the exon 3 Date 22-Feb-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8617299 RefAuthors Chilosi, M., Facchetti, F., Notarangelo, L.D., Romagnani, RefAuthors S., Del Prete, G., Almerigogna, F., De Carli, M., RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P., RefAuthors Pizzolo, G. RefTitle CD30 cell expression and abnormal soluble CD30 serum RefTitle accumulation in Omenn's syndrome: evidence for a T helper RefTitle 2-mediated condition RefLoc Eur. J. Immunol. 26:329-334 (1996) 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; 179616.0003 DB CrossRef OMIM; 179616.0004 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1324 Feature /change: c -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1324 Feature /codon: tgc -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 41 Feature /change: C -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2055 Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2055 Feature /codon: atg -> agg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 285 Feature /change: M -> R Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Symptoms Protracted diarrhea Age at onset 1 week WBC 16.0 Total lymphoc 5.88 Eosin 3.37 IgA <0.06 IgE 316 kU/I IgG 1.01 IgM 0.06 CD3 45 CD4 12 CD45RA 3 CD45R0 96 CD8 35 CD16 42 CD19/CD20 <1 DR 25 PHA 7 MFT - // ID T77N(1),G451A(1); standard; MUTATION; I, Accession S0044 Systematic name Allele 1: g.5298C>A, c.230C>A, r.230c>a, p.Thr77Asn Systematic name Allele 2: g.6420G>C, c.1352G>C, r.1352g>c, p.Gly451Ala Original code P.3 Description Allele 1: A point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: A point mutation in the exon 1 leading to an Description amino acid change 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: RAG2_DNA: 5298 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1431 Feature /codon: act -> aat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 77 Feature /change: T -> N Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6420 Feature /change: g -> c Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2553 Feature /codon: ggg -> gcg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 451 Feature /change: G -> A Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Severe varicella infection; Recurrent bronchopneumonias; Age 10.7 Sex XX IgA <6 mg/dl IgE <5 mg/dl IgG 146 mg/dl IgM 11.3 mg/dl // ID G95R(1),W453R(1); standard; MUTATION; Accession S0007 Systematic name Allele 1: g.1484G>A, c.1484G>A, p.G95R Systematic name Allele 2: g.2558T>A, c.2558T>A, p.W453R Original code LJM Description Allele 1 and 2; missense mutation in the exon 3 Date 01-Mar-1999 (Rel. 1, Created) Date 21-Mar-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10891502 RefAuthors Gomez, C. A., Ptaszek, L. M., Villa, A., Bozzi, F., RefAuthors Sobacchi, C., Brooks, E. G., Notarangelo, L. D., RefAuthors Spanopoulou, E., Pan, Z. Q., Vezzoni, P., Cortes, P., RefAuthors Santagata, S. RefTitle Mutations in conserved regions of the predicted RAG2 kelch RefTitle repeats block initiation of V(D)J recombination and result RefTitle in primary immunodeficiencies RefLoc Mol. Cell. Biol. 20:5653-5664(2000) DB CrossRef OMIM; 179616.0005 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1484 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1484 Feature /codon: gga -> aga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 95 Feature /change: G -> R FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2558 Feature /change: t -> a Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2558 Feature /codon: tgg -> agg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 453 Feature /change: W -> R Diagnosis Omenn syndrome // ID G95R(3),R229W(6); standard; MUTATION; I,I Accession S0028 Systematic name Allele 1: g.5351G>A, c.283G>A, r.283g>a, p.Gly95Arg Systematic name Allele 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 4 Description Allele 1: a point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: a point mutation in the exon 1 leading to an Description amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5351 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1484 Feature /codon: gga -> aga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 95 Feature /change: G -> R Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Family history Inherited WBC 6300 Total lymphoc 1953 IgA 0 IgG 0 IgM 9 CD3 55 CD4 41 CD8 14 CD16 1 CD19 4 DR nd // ID @L155X177(1),@L155X177(1); standard; MUTATION; Accession S0011 Systematic name Allele 1 and 2: g.1664_1665insTGTTC, c.1664_1665insTGTTC, Systematic name p.L155fsX177 Original code P4 Description Allele 1 and 2; frameshift insertion in the exon 3 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: insertion Feature /loc: EMBL: HSRAG2X: 1665 Feature /change: +tgttc Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1665 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: P55895; RAG2_HUMAN: 155 Feature /change: L -> LFSFEDAHTC LLPTEPQKNG IVX FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: insertion Feature /loc: EMBL: HSRAG2X: 1665 Feature /change: +tgttc Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1665 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: P55895; RAG2_HUMAN: 155 Feature /change: L -> LFSFEDAHTC LLPTEPQKNG IVX Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive Age at onset 2 months WBC 11 Total lymphoc 0.66 Eosin 0.44 IgA <0.1 IgE 138 kU/I IgG 2 IgM <0.01 CD3 <1 CD4 3 CD45RA n.d. CD45R0 n.d. CD8 8 CD16 70 CD19/CD20 <1 DR n.d. PHA 4 MFT n.d. // ID R148X(1),F206C(1); standard; MUTATION; Accession S0013 Systematic name Allele 1: g.1643C>T, c.1643C>T, p.R148X Systematic name Allele 2: g.1818T>G, c.1818T>G, p.F206C Original code P29 Description Allele 1; nonsense mutation in the exon 2 leading to stop Description codons and premature termination Description Allele 2; missense mutation in the exon 3 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: HSRAG2X: 1643 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1643 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: P55895; RAG2_HUMAN: 148 Feature /change: R -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1818 Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1818 Feature /codon: ttt -> tgt; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 206 Feature /change: F -> C Diagnosis Omenn syndrome Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Age at onset 1 month WBC 5.9 Total lymphoc 0.71 Eosin 1.77 IgA <0.05 IgE 5 kU/I IgG <1 IgM <0.05 CD3 58 CD4 20 CD45RA n.d. CD45R0 n.d. CD8 38 CD16 16 CD19/CD20 <1 DR n.d. PHA 6 MFT - // ID S160L(1),M502V(1); standard; MUTATION; I, Accession S0036 Systematic name Allele 1: g.5547C>T, c.479C>T, r.479c>u, p.Ser160Leu Systematic name Allele 2: g.6572A>G, c.1504A>G, r.1504a>g, p.Met502Val Original code P43 Description Allele 1: A point mutation in the exon 1 leading to an Description amino acid change in the I domain Description Allele 2: A point mutation in the exon 1 leading to an Description amino acid change in the I domain Date 27-May-2008 (Rel. 1, Created) Date 27-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: RAG2_DNA: 5547 Feature /change: c -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1680 Feature /codon: tca -> tta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 160 Feature /change: S -> L Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6572 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2705 Feature /codon: atg -> gtg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 502 Feature /change: M -> V Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Age 3 weeks WBC 41.2 IgE 200 IgG 0.73 CD3 8 CD4 75 CD4+CD45RA+ 1 CD4+CD45R0+ 99 CD8 10 CD16 15 // ID S194X/Y195D(1),S194X/Y195D(1); standard; MUTATION; I,I Accession S0043 Systematic name Allele 1 and 2: g.[5649C>A;5651T>G], c.[581C>A;583T>G], Systematic name r.[581c>a;583u>g], p.[Ser194X;Tyr195Asp] Original code Patient Description Allele 1 and 2: Two point mutation in the exon 1 leading Description to a premature stop codon and an amino acid change in the Description I domain Date 22-Jun-2010 (Rel. 1, Created) Date 22-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20128425 RefAuthors Sadeghi-Shabestari, M., Vesal, S., Jabbarpour-Bonyadi, M., RefAuthors de Villatay, J. P., Fischer, A., Rezaei, N. RefTitle Novel RAG2 mutation in a patient with T- B- severe RefTitle combined immunodeficiency and disseminated BCG disease. RefLoc J Investig Allergol Clin Immunol:494-496 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 3 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5649 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature dna; 2 Feature /rnalink: 4 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5651 Feature /change: t -> g Feature /genomic_region: exon; 1 Feature rna; 3 Feature /dnalink: 1 Feature /aalink: 5 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1782 Feature /codon: tca -> taa; 2 Feature rna; 4 Feature /dnalink: 2 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1784 Feature /codon: tac -> gac; 1 Feature aa; 5 Feature /rnalink: 3 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 194 Feature /change: S -> X Feature /domain: I Feature aa; 6 Feature /rnalink: 4 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 195 Feature /change: Y -> D Feature /domain: I FeatureHeader allele; 2 Feature dna; 7 Feature /rnalink: 9 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5649 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature dna; 8 Feature /rnalink: 10 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5651 Feature /change: t -> g Feature /genomic_region: exon; 1 Feature rna; 9 Feature /dnalink: 7 Feature /aalink: 11 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1782 Feature /codon: tca -> taa; 2 Feature rna; 10 Feature /dnalink: 8 Feature /aalink: 12 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1784 Feature /codon: tac -> gac; 1 Feature aa; 11 Feature /rnalink: 9 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 194 Feature /change: S -> X Feature /domain: I Feature aa; 12 Feature /rnalink: 10 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 195 Feature /change: Y -> D Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Others: Symptoms oral candidiasis, respiratory distress Age 0.5 Sex XY Ethnic origin Turkey Family history Inherited WBC 3200 IgA 0.95 IgG 4.18 IgM 0.54 CD3 10 CD4 6 CD8 12 CD19 2 Comment first sibling died of disseminated BCG at 7 months age Comment parents consanguineous // ID T215I(1),T215I(1); standard; MUTATION; I,I Accession S0032 Systematic name Allele 1 and 2: g.5712C>T, c.644C>T, r.644c>u, p.Thr215Ile Original code Patient 9 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5712 Feature /change: c -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1845 Feature /codon: acc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 215 Feature /change: T -> I Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5712 Feature /change: c -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1845 Feature /codon: acc -> atc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 215 Feature /change: T -> I Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Ethnic origin Jewish Family history Inherited WBC 6000 Total lymphoc 600 IgA <6 IgG 0 IgM 25 CD3 40 CD4 24 CD8 15 CD16 33 CD19 0 DR 0 // ID R229Q(5),R229Q(5); standard; MUTATION; I,I Accession S0045 Systematic name Allele 1 and 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln Original code P8 Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change in the I domain Date 05-Aug-2010 (Rel. 1, Created) Date 05-Aug-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19414857 RefAuthors Poliani, P. L., Facchetti, F., Ravanini, M., Gennery, A. RefAuthors R., Villa, A., Roifman, C. M., Notarangelo, L. D. RefTitle Early defects in human T-cell development severely affect RefTitle distribution and maturation of thymic stromal cells: RefTitle possible implications for the pathophysiology of omenn RefTitle syndrome. RefLoc Blood:105-108 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5754 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 229 Feature /change: R -> Q Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5754 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 229 Feature /change: R -> Q Feature /domain: I Diagnosis Omenn Syndrome Symptoms Failure to thrive; Erythrodermia; interstitial pneumonia; Symptoms Chronic diarrhea; Myocarditis; // ID R229W(1),R229W(1); standard; MUTATION; Accession S0009 Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W Original code P24 Description Allele 1 and 2; missense mutation in the exon 3 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: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W Diagnosis Leaky severe combined immunodeficiency Symptoms Erythrodermia; Skin rash; Age at onset birth WBC 1.67 Total lymphoc 0.28 Eosin 0.78 IgA 0.34 IgE 8500 kU/I IgG 3.85 IgM 0.20 CD3 53 CD4 45 CD45RA n.d. CD45R0 n.d. CD8 15 CD16 19 CD19/CD20 6 DR 70 PHA 4.5 MFT n.d. // ID R229W(2a),R229W(2a); standard; MUTATION; Accession S0014 Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W Original code P30a Description Allele 1 and 2; missense mutation in the exon 3 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: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W Diagnosis Omenn syndrome Symptoms Erythrodermia; Lymphoadenopathy; Hepatomegaly; Symptoms Splenomegaly; Age at onset 4 months Sex XY Relative RAG2; S0015 brother WBC n.a. Total lymphoc n.a. Eosin n.a. IgA n.a. IgE n.a. IgG n.a. IgM n.a. CD3 77 CD4 74 CD45RA n.d. CD45R0 n.d. CD8 4 CD16 7 CD19/CD20 4 DR 72 PHA 2.5 MFT - // ID R229W(2b),R229W(2b); standard; MUTATION; Accession S0015 Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W Original code P30b Description Allele 1 and 2; missense mutation in the exon 3 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: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1886 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> W Diagnosis Omenn syndrome Symptoms Erythrodermia; Lymphoadenopathy; Hepatomegaly; Symptoms Splenomegaly; Age at onset 4 months Sex XY Relative RAG2; S0014 brother WBC n.a. Total lymphoc n.a. Eosin n.a. IgA n.a. IgE n.a. IgG n.a. IgM n.a. CD3 61 CD4 59 CD45RA 8 CD45R0 96 CD8 8 CD16 9 CD19/CD20 2 DR 37 PHA n.a. MFT - // ID R229Q(1),R229Q(1); standard; MUTATION; Accession S0008 Systematic name Allele 1 and 2: g.1887G>A, c.1887G>A, p.R229Q Original code P26 ref [2] Description Allele 1 and 2; missense mutation in the exon 3 Date 01-Mar-1999 (Rel. 1, Created) Date 09-Jan-2001 (Rel. 1, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10552957 RefAuthors Signorini, S., Imberti, L., Pirovano, S., Villa, A., RefAuthors Facchetti, F., Ungari, M., Bozzi, F., Albertini, A., RefAuthors Ugazio, A. G., Vezzoni, P., Notarangelo, L. D. RefTitle Intrathymic restriction and peripheral expansion of the RefTitle T-cell repertoire in Omenn syndrome RefLoc Blood 94:3468-3478 (1999) 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: HSRAG2X: 1887 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1887 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> Q Diagnosis Leaky severe combined immunodeficiency Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Hepatomegaly; Protracted diarrhea Age at onset 2 weeks Sex XX Family history inherited Parents consanguineous WBC 21.5 Total lymphoc 8.6 Eosin 9.67 IgA 0.08 IgE 9100 kU/I IgG 2.05 IgM 0.87 CD3 43 CD4 12 CD45RA 1 CD45R0 99 CD8 16 CD16 46 CD19/CD20 <1 DR 59 PHA 7.5 MFT - // ID R229Q(2),Deletion(1); standard; MUTATION; Accession S0003 Systematic name Allele 1: g.1887G>A, c.1887G>A, p.R229Q Original code P3 ref [1]; P20 ref [2] Description Allele 1; missense mutation in the exon 3 Description Allele 2; large undefined deletion on chromosome 11p13 Description encompassed the total RAG1 and RAG2 genes 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 OMIM; 179616.0002 DB CrossRef DB CrossRef UniProt; P55895:229_229 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 1887 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 229 Feature /change: R -> Q FeatureHeader allele; 2 Feature dna; 4 Feature /name: deletion Feature /change: unknown Feature /note: large undefined deletion on chromosome 11p13 Feature /note: paternal deletion encompassed the total RAG1 and Feature /note: RAG2 genes Feature /note: the break points were not determined Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: unknown Feature aa; 6 Feature /rnalink: 5 Feature /name: unknown Diagnosis Leaky severe combined immunodeficiency Symptoms Erythrodermia; Hepatomegaly; Protracted diarrhea Age at onset 2.5 months Sex XY Family history inherited Parents consanguineous WBC 12.9 Total lymphoc 3.22 Eosin 4.38 IgA 0.11 IgE 21 kU/I IgG 2.08 IgM <0.08 CD3 35 CD4 27 CD45RA n.d. CD45R0 n.d. CD8 11 CD16 50 CD19/CD20 5 DR n.d. PHA 109 MFT - // ID R229W(3),R229W(3); standard; MUTATION; I,I Accession S0026 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 1 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Ethnic origin Jewish Family history Inherited WBC 2870 Total lymphoc 287 IgA 10 IgG 448 IgM 23 CD3 16 CD4 15 CD8 12 CD16 64 CD19 2 DR nd // ID R229W(4),R229W(4); standard; MUTATION; I,I Accession S0027 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 2 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Ethnic origin Jewish Family history Inherited WBC 11,670 Total lymphoc 1972 IgA 34 IgG 385 IgM 20 CD3 53 CD4 45 CD8 15 CD16 19 CD19 2 DR 70 // ID R229W(7),R229W(7); standard; MUTATION; I,I Accession S0029 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 5 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Ethnic origin Arab Family history Inherited Parents consanguineous WBC 45,200 Total lymphoc 34,300 IgA 0 IgG 0 IgM 3 CD3 93 CD4 28 CD8 68 CD16 5 CD19 2 DR 89 // ID R229W(8),R229W(8); standard; MUTATION; I,I Accession S0030 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 6 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy; Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea; Symptoms Others: Symptoms severe infections Ethnic origin Arab Family history Inherited WBC 40,000 Total lymphoc 20,000 IgA na IgG na IgM na CD3 60 CD4 44 CD8 25 CD16 5 CD19 2 DR 68 // ID R229W(9),R229W(9); standard; MUTATION; I,I Accession S0035 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code Patient 14 Description Allele 1 and 2: a point mutation in the exon 1 leading to Description an amino acid change 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; 15025726 RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan, RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I. RefTitle Detection of RAG mutations and prenatal diagnosis in RefTitle families presenting with either T-B- severe combined RefTitle immunodeficiency or omenn's syndrome. RefLoc Clin Genet 65:322-326 (2004) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Ethnic origin Jewish Family history Inherited WBC 1260 Total lymphoc 110 IgA 7 IgG 1200 (on intravenous Ig) IgM 145 CD3 36 CD4 14 CD8 7 CD16 41 CD19 0 DR nd // ID R229W(10),R229W(10); standard; MUTATION; I,I Accession S0038 Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp Original code P48 Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change in the I domain Date 27-May-2008 (Rel. 1, Created) Date 27-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: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5753 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886 Feature /codon: cgg -> tgg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 229 Feature /change: R -> W Feature /domain: I Diagnosis Omenn Syndrome Symptoms Others: Symptoms Recurrent URTI, Generalised oedema Age 15 days WBC 11.4 IgA 0.72 IgE >2000 IgG 7.21 IgM 0.56 CD3 67 CD4 60 CD8 22 CD16 26 // ID #V238X247(1a),#V238X247(1a); standard; MUTATION; I,I Accession S0020 Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg, Systematic name p.Val238fsX10 Original code RAG-SCID 2.1 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 1 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; 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: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Family history Inherited Parents consanguineous Relative RAG2base; S0021 // ID #V238X247(1b),#V238X247(1b); standard; MUTATION; I,I Accession S0021 Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg, Systematic name p.Val238fsX10 Original code RAG-SCID 2.2 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 1 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; 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: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Family history Inherited Parents consanguineous Relative RAG2base; S0020 // ID #V238X247(2),#V238X247(2); standard; MUTATION; I,I Accession S0023 Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg, Systematic name p.Val238fsX10 Original code RAG-SCID 4 Description Allele 1 and 2: a frame shift deletion mutation in the exon Description 1 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; 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: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: IDRefSeq: RAG2_DNA: 5780 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: frameshift Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: RAG2_HUMAN: 238 Feature /change: V -> LIFPWVAQLX Feature /domain: I Diagnosis T and B cell-negative severe combined immunodeficiency Comment Seemingly homozygous mutation, but deletion of the other Comment allele was not ruled out. // ID K440N(1),P253R(1); standard; MUTATION; DNAB,I Accession S0040 Systematic name Allele 1: g.6388A>C, c.1320A>C, r.1320a>c, p.Lys440Asn Systematic name Allele 2: g.5826C>G, c.758C>G, r.758c>g, p.Pro253Arg Original code P56 Description Allele 1: A point mutation in the exon 1 leading to an Description amino acid change in the DNAB domain Description Allele 2: A point mutation in the exon 1 leading to an Description amino acid change in the DNAB 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: RAG2_DNA: 6388 Feature /change: a -> c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2521 Feature /codon: aaa -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 440 Feature /change: K -> N Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 5826 Feature /change: c -> g Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1959 Feature /codon: cca -> cga; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 253 Feature /change: P -> R Feature /domain: I Diagnosis Omenn Syndrome Age 7 months WBC 9.9 CD3 13 CD4 8 CD8 2 CD16 83 // ID #I273-1(1),#I273-1(1); standard; MUTATION; Accession S0005 Systematic name Allele 1: g.2018_2020delATT, c.2018_2020delATT, p.I273del Original code DN Description Allele 1 and 2; inframe deletion in the exon 3 Date 01-Mar-1999 (Rel. 1, Created) Date 21-Mar-2000 (Rel. 1, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10891502 RefAuthors Gomez, C. A., Ptaszek, L. M., Villa, A., Bozzi, F., RefAuthors Sobacchi, C., Brooks, E. G., Notarangelo, L. D., RefAuthors Spanopoulou, E., Pan, Z. Q., Vezzoni, P., Cortes, P., RefAuthors Santagata, S. RefTitle Mutations in conserved regions of the predicted RAG2 kelch RefTitle repeats block initiation of V(D)J recombination and result RefTitle in primary immunodeficiencies RefLoc Mol. Cell. Biol. 20:5653-5664(2000) DB CrossRef OMIM; 179616.0006 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: HSRAG2X: 2018..2020 Feature /change: -att Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: inframe deletion Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2018..2020 Feature aa; 3 Feature /rnalink: 2 Feature /name: deletion; inframe Feature /loc: UniProt: P55895; RAG2_HUMAN: 273 Feature /change: -I FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: deletion Feature /loc: EMBL: HSRAG2X: 2018..2020 Feature /change: -att Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: inframe deletion Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2018..2020 Feature aa; 6 Feature /rnalink: 5 Feature /name: deletion; inframe Feature /loc: UniProt: P55895; RAG2_HUMAN: 273 Feature /change: -I Diagnosis B cell-negative severe combined immunodeficiency // ID W307X(1),W307X(1); standard; MUTATION; Accession S0010 Systematic name Allele 1 and 2: g.2122G>A, c.2122G>A, p.W307X Original code P1 Description Allele 1 and 2; nonsense mutation in the exon 3 leading Description to stop codon and premature termination 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: HSRAG2X: 2122 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2122 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: P55895; RAG2_HUMAN: 307 Feature /change: W -> X FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2122 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2122 Feature /codon: tgg -> tga; 3 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: UniProt: P55895; RAG2_HUMAN: 307 Feature /change: W -> X Diagnosis T and B cell-negative severe combined immunodeficiency Symptoms Failure to thrive; Protracted diarrhea Age at onset 4 months WBC 7.2 Total lymphoc 0.72 Eosin 0.14 IgA <0.01 IgE n.d. IgG <1 IgM <0.01 CD3 <1 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 74 CD19/CD20 <1 DR n.d. PHA n.d. MFT n.d. // ID E407X(1),E407X(1); standard; MUTATION; DNAB,DNAB Accession S0041 Systematic name Allele 1 and 2: g.6287G>T, c.1219G>T, r.1219g>u, p.Glu407X Description Allele 1 and 2: A point mutation in the exon 1 leading to a Description premature stop codon in the DNAB domain Date 25-Aug-2008 (Rel. 1, Created) Date 25-Aug-2008 (Rel. 1, Last updated, Version 1) RefNumber [1] RefLoc Submitted (25-Aug-2008) to RAG2base. RefLoc Rami Abou Jamra; Institute of Human Genetics, University of RefLoc Bonn, Wilhelmstr. 31, 53111 Bonn, Germany; Tel RefLoc +4922828722170; Fax +4922828722380; e-mail RefLoc rami.aboujamra@uni-bonn.de FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6287 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2420 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 407 Feature /change: E -> X Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6287 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: nonsense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2420 Feature /codon: gaa -> taa; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RAG2_HUMAN: 407 Feature /change: E -> X Feature /domain: DNAB Symptoms Others: Symptoms recurrent infections, also cerebral. Age 5 Sex XY Ethnic origin Caucasoid; Libya, Tunisia Family history Not known Relative Two affected brothers. One died at the age of 5 years and Relative the other at the age of 1 year. Not other known cases in Relative the family. Parents are probably far related. Comment Can not decide if it is Omenn syndrome or SCID. // ID W416L(1),W416L(1); standard; MUTATION; DNAB,DNAB Accession S0037 Systematic name Allele 1 and 2: g.6315G>T, c.1247G>T, r.1247g>u, Systematic name p.Trp416Leu Original code P45 Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change in the DNAB domain Date 27-May-2008 (Rel. 1, Created) Date 27-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: RAG2_DNA: 6315 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2448 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 416 Feature /change: W -> L Feature /domain: DNAB FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6315 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2448 Feature /codon: tgg -> ttg; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 416 Feature /change: W -> L Feature /domain: DNAB Diagnosis Omenn Syndrome Symptoms Infections: Symptoms Failure to thrive; Erythrodermia; Skin rash; Symptoms Lymphoadenopathy; Splenomegaly; Protracted diarrhea; Age 3 months WBC 44.3 IgA <0.07 IgE 124 IgG <0.07 IgM <0.07 CD3 94 CD4 80 CD4+CD45RA+ 27 CD4+CD45R0+ 80 CD8 16 CD16 4 // ID W453R(2),W453R(2); standard; MUTATION; Accession S0024 Systematic name Allele 1 and 2: g.6425T>A, c.1357T>A, r.1357u>a, Systematic name p.Trp453Arg Original code RAG-SCID 5 Description Allele 1 and 2: a point mutation in the exon 1 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; 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: RAG2_DNA: 6425 Feature /change: t -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2558 Feature /codon: tgg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 453 Feature /change: W -> R FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6425 Feature /change: t -> a Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2558 Feature /codon: tgg -> agg; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 453 Feature /change: W -> R Diagnosis Omenn Syndrome Family history Inherited // ID A456T(1),A456T(1); standard; MUTATION; Accession S0042 Systematic name Allele 1 and 2: g.6434G>A, c.1366G>A, r.1366g>a, Systematic name p.Ala456Thr Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change Date 18-Jun-2010 (Rel. 1, Created) Date 18-Jun-2010 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19470080 RefAuthors Ktiouet, S., Bertrand, Y., Rival-Tringali, A. L., RefAuthors Kanitakis, J., Malcus, C., Poitevin, F., Picard, C., RefAuthors Claudy, A., Faure, M. RefTitle Omenn syndrome due to mutation of the RAG2 gene. RefLoc J Eur Acad Dermatol Venereol:1449-1451 (2009) FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6434 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2567 Feature /codon: gct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 456 Feature /change: A -> T FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6434 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2567 Feature /codon: gct -> act; 1 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: SWISS-PROT: RAG2_HUMAN: 456 Feature /change: A -> T Diagnosis Omenn Syndrome Symptoms Others: Symptoms loss of hair, epidermal acanthosis and papillomatosis, slight spongiosis Age 0 Sex XX Ethnic origin France Relative Parents heterozygous carriers of 2567g>a WBC 56 Total lymphoc 45 Eosinophils 5 IgE 30 // ID N474S(1),N474S(1); standard; MUTATION; Accession S0012 Systematic name Allele 1 and 2: g.2622A>G, c.2622A>G, p.N474S Original code P10 Description Allele 1 and 2; missense mutation in the exon 3 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: HSRAG2X: 2622 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2622 Feature /codon: aac -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 474 Feature /change: N -> S FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2622 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2622 Feature /codon: aac -> agc; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 474 Feature /change: N -> S Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Protracted diarrhea Age at onset 1 week WBC 2.8 Total lymphoc 1.12 Eosin n.d. IgA 0.07 IgE 87 kU/I IgG 6.7 maternally-derived IgM 0.08 CD3 2 CD4 2 CD45RA <1 CD45R0 2 CD8 <1 CD16 70 CD19/CD20 <1 DR <1 PHA n.d. MFT + // ID C478Y(1a),C478Y(1a); standard; MUTATION; Accession S0001 Systematic name Allele 1 and 2: g.2634G>A, c.2634G>A, p.C478Y Original code P5 ref [1]; P9a ref [2] Description Allele 1 and 2; missense mutation in the exon 3 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; 179616.0001 DB CrossRef DB CrossRef UniProt; P55895:478_478 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2634 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 478 Feature /change: C -> Y FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2634 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634 Feature /codon: tgc -> tac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 478 Feature /change: C -> Y Diagnosis T and B cell-negative severe combined immunodeficiency Age at onset birth Relative RAG2; S0002 cousin WBC 5.0 Total lymphoc 2.0 Eosin 0.25 IgA <0.1 IgE <2 kU/I IgG 4.6 IgM <0.1 CD3 4 CD4 <1 CD45RA n.d. CD45R0 n.d. CD8 <1 CD16 41 CD19/CD20 <1 DR n.d. PHA n.d. MFT - // ID C478Y(1b),C478Y(1b); standard; MUTATION; Accession S0002 Systematic name Allele 1 and 2: g.2634G>A, c.2634G>A, p.C478Y Original code P6 ref [1]; P9b ref [2] Description Allele 1 and 2; missense mutation in the exon 3 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; 179616.0001 DB CrossRef DB CrossRef UniProt; P55895:478_478 FeatureHeader allele; 1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2634 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 478 Feature /change: C -> Y FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: EMBL: HSRAG2X: 2634 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634 Feature /codon: tgc -> tac; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: P55895; RAG2_HUMAN: 478 Feature /change: C -> Y Diagnosis Combined immunodeficiency with maternal fetal transfusion Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia; Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Age at onset 2 weeks Relative RAG2; S0001 cousin WBC 10 Total lymphoc 5.0 Eosin 2.0 IgA <0.05 IgE 3 kU/I IgG 0.9 IgM <0.05 CD3 70 CD4 46 CD45RA n.d. CD45R0 n.d. CD8 21 CD16 41 CD19/CD20 <1 DR n.d. PHA 12 MFT + // ID H481P(1),H481P(1); standard; MUTATION; Accession S0022 Systematic name Allele 1 and 2: g.6510A>C, c.1442A>C, r.1442a>c, Systematic name p.His481Pro Original code RAG-SCID 3 Description Allele 1 and 2: a point mutation in the exon 1 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; 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: RAG2_DNA: 6510 Feature /change: a -> c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2643 Feature /codon: cat -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 481 Feature /change: H -> P FeatureHeader allele; 2 Feature dna; 4 Feature /rnalink: 5 Feature /name: point Feature /loc: IDRefSeq: RAG2_DNA: 6510 Feature /change: a -> c Feature /genomic_region: exon; 1 Feature rna; 5 Feature /dnalink: 4 Feature /aalink: 6 Feature /name: missense Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2643 Feature /codon: cat -> cct; 2 Feature aa; 6 Feature /rnalink: 5 Feature /name: aa substitution Feature /loc: UniProt: RAG2_HUMAN: 481 Feature /change: H -> P Diagnosis T and B cell-negative severe combined immunodeficiency Family history Inherited Parents consanguineous Comment Seemingly homozygous mutation, but deletion of the other Comment allele was not ruled out. //