Database IL12Bbase
Version 1.0
File il12bpub.html
Date 15-Jun-2007
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/IL12Bbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF46.html
Gene IL12B
Disease Interleukin-12 (IL-12) p40 deficiency
OMIM 161561
GDB 127870
Sequence IDRefSeq:D0047; IDRefSeq:C0047; UniProt:P29460
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #H99X112(1),#H99X112(1); standard; MUTATION; IG-C2,IG-C2
Accession I0012
Systematic name Allele 1 and 2: g.9794_9801delTTCGCTCC,
Systematic name c.297_304delTTCGCTCC, r.297_304deluucgcucc, p.Ser100fsX12
Original code IKO
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the IG-C2 domain
Date 22-Sep-2005 (Rel. 1, Created)
Date 22-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992283
RefAuthors Elloumi-Zghal, H., Barbouche, M. R., Chemli, J., Bejaoui,
RefAuthors M., Harbi, A., Snoussi, N., Abdelhak, S., Dellagi, K.
RefTitle Clinical and genetic heterogeneity of inherited autosomal
RefTitle recessive susceptibility to disseminated mycobacterium
RefTitle bovis bacille calmette-guérin infection.
RefLoc J Infect Dis 185:1468-1475 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes
Symptoms Other clinical features: fever, bilateral fistulizing
Symptoms axillary adenitis, hepatosplenomegaly, tuberculosis of the
Symptoms left humerus with subperiosteal abscess and abscess of
Symptoms iliac fossa
Sex XX
Ethnic origin Tunisian
Parents Consanguineous
//
ID #H99X112(2a),#H99X112(2a); standard; MUTATION; IG-C2,IG-C2
Accession I0013
Systematic name Allele 1 and 2: g.9794_9801delTTCGCTCC,
Systematic name c.297_304delTTCGCTCC, r.297_304deluucgcucc, p.Ser100fsX12
Original code BBH
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the IG-C2 domain
Date 22-Sep-2005 (Rel. 1, Created)
Date 22-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992283
RefAuthors Elloumi-Zghal, H., Barbouche, M. R., Chemli, J., Bejaoui,
RefAuthors M., Harbi, A., Snoussi, N., Abdelhak, S., Dellagi, K.
RefTitle Clinical and genetic heterogeneity of inherited autosomal
RefTitle recessive susceptibility to disseminated mycobacterium
RefTitle bovis bacille calmette-guérin infection.
RefLoc J Infect Dis 185:1468-1475 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes
Symptoms Other clinical features: axillary lymphadenitis that
Symptoms disseminated rapidly, multiple adenitis, splenomegaly,
Symptoms fever, portal-vein cavernous angioma. Patient died from a
Symptoms fulminant varicella-zoster virus infection with typical
Symptoms vesicular skin rash and respiratory failure
Sex XY
Ethnic origin Tunisian
Parents Non-consanguineous
Relative IL12Bbase; I0014 sister
//
ID #H99X112(2b),#H99X112(2b); standard; MUTATION; IG-C2,IG-C2
Accession I0014
Systematic name Allele 1 and 2: g.9794_9801delTTCGCTCC,
Systematic name c.297_304delTTCGCTCC, r.297_304deluucgcucc, p.Ser100fsX12
Original code FBH
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the IG-C2 domain
Date 22-Sep-2005 (Rel. 1, Created)
Date 22-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992283
RefAuthors Elloumi-Zghal, H., Barbouche, M. R., Chemli, J., Bejaoui,
RefAuthors M., Harbi, A., Snoussi, N., Abdelhak, S., Dellagi, K.
RefTitle Clinical and genetic heterogeneity of inherited autosomal
RefTitle recessive susceptibility to disseminated mycobacterium
RefTitle bovis bacille calmette-guérin infection.
RefLoc J Infect Dis 185:1468-1475 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 9794..9801
Feature /change: -ttcgctcc
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 339..346
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 99..102
Feature /change: HSLL -> HAASQKGRWN LVHX
Feature /domain: IG-C2
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes
Symptoms Other clinical features: left axillary lymphadenopathy that
Symptoms had undergone fistulization, benign varicella
Sex XX
Ethnic origin Tunisian
Parents Non-consanguineous
Relative IL12Bbase; I0013 brother
//
ID @K107X115(1a),@K107X115(1a); standard; MUTATION;
Accession I0003
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient C.II.2
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms disseminated BCG infection
Symptoms Other clinical features: Nocardia asteroides pleurisy
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0004 sister
//
ID @K107X115(1b),@K107X115(1b); standard; MUTATION;
Accession I0004
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient C.II.3
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms disseminated BCG infection
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0003 sister
//
ID @K107X115(2a),@K107X115(2a); standard; MUTATION;
Accession I0005
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient D.II.1
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms axillary BCG adenitis
Sex XY
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0006 brother
Relative IL12Bbase; I0007 sister
//
ID @K107X115(2b),@K107X115(2b); standard; MUTATION;
Accession I0006
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient D.II.2
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms axillary BCG adenitis
Sex XY
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0005 brother
Relative IL12Bbase; I0007 sister
//
ID @K107X115(2c),@K107X115(2c); standard; MUTATION;
Accession I0007
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient D.II.4
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms axillary BCG adenitis
Symptoms Mycobacterial infections:
Symptoms M. tuberculosis; occipital lymphadenitis
Symptoms Salmonella infections:
Symptoms S. paratyphi; type C gastroenteritis
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0005 brother
Relative IL12Bbase; I0006 brother
//
ID @K107X115(3),@K107X115(3); standard; MUTATION;
Accession I0008
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient E.II.2
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms disseminated BCG infection. Patient did not respond to
Symptoms medication and died of infection at age 2 years
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
//
ID @K107X115(4a),@K107X115(4a); standard; MUTATION;
Accession I0009
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient F.II.3
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms disseminated BCG infection
Symptoms Salmonella infections:
Symptoms Other; Salmonella adenitis
Symptoms Other clinical features: meningoencephalitis; disease
Symptoms proved fatal and the causal microorganism was not isolated
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0010 sister
Relative IL12Bbase; I0011 sister
//
ID @K107X115(4b),@K107X115(4b); standard; MUTATION;
Accession I0010
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient F.II.4
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms disseminated BCG infection
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0009 sister
Relative IL12Bbase; I0011 sister
//
ID @K107X115(4c),@K107X115(4c); standard; MUTATION;
Accession I0011
Systematic name Allele 1 and 2: g.9817dupA, c.320dupA, r.320dupa,
Systematic name p.Glu108fsX7
Original code Patient F.II.5
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0047: 9818
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 363
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 107
Feature /change: K -> KGRWNLVHX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: No; infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms Other; disseminated M. chelonae infection. Patient did
Symptoms not respond to treatment and died of infection at age 3
Symptoms years
Symptoms Salmonella infections:
Symptoms Other; Salmonella group B adenitis
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
Relative IL12Bbase; I0009 sister
Relative IL12Bbase; I0010 sister
//
ID #G161X207(1),#G161X207(1); standard; MUTATION;
Accession I0001
Systematic name Allele 1 and 2: g.10521_10893del, c.482_854del,
Systematic name r.482_854del, p.Ser162fsX45
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9854038
RefAuthors Altare, F., Lammas, D., Revy, P., Jouanguy, E., Doffinger,
RefAuthors R., Lamhamedi, S., Drysdale, P., Scheel-Toellner, D.,
RefAuthors Girdlestone, J., Darbyshire, P., Wadhwa, M., Dockrell, H.,
RefAuthors Salmon, M., Fischer, A., Durandy, A., Casanova, J. L.,
RefAuthors Kumararatne, D. S.
RefTitle Inherited interleukin 12 deficiency in a child with
RefTitle bacille calmette-guérin and salmonella enteritidis
RefTitle disseminated infection.
RefLoc J Clin Invest 102:2035-2040 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 10521..10893
Feature /change: -gctcttctga cccccaaggg gtgacgtgcg gagctgctac
Feature /change: actctctgca gagagagtca gaggggacaa caaggagtat
Feature /change: gagtactcag tggagtgcca ggaggacagt gcctgcccag
Feature /change: ctgctgagga gagtctgccc attgaggtca tggtggatgc
Feature /change: cgttcacaag ctcaagtatg aaaactacac cagcagcttc
Feature /change: ttcatcaggg acatcatcaa acctgaccca cccaagaact
Feature /change: tgcagctgaa gccattaaag aattctcggc aggtggaggt
Feature /change: cagctgggag taccctgaca cctggagtac tccacattcc
Feature /change: tacttctccc tgacattctg cgttcaggtc cagggcaaga
Feature /change: gcaagagaga aaa
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 524..896
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 161..285
Feature /change: GSSDPQGVTC GAATLSAERV RGDNKEYEYS VECQEDSACP
Feature /change: AAEESLPIEV MVDAVHKLKY ENYTSSFFIR DIIKPDPPKN
Feature /change: LQLKPLKNSR QVEVSWEYPD TWSTPHSYFS LTFCVQVQGK
Feature /change: SKREK
Feature /change: ->
Feature /change: GKIESSRTRP QPRSSAAKMP ALACGPRTAT IAHLGANGHL
Feature /change: CPAVRFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 10521..10893
Feature /change: -gctcttctga cccccaaggg gtgacgtgcg gagctgctac
Feature /change: actctctgca gagagagtca gaggggacaa caaggagtat
Feature /change: gagtactcag tggagtgcca ggaggacagt gcctgcccag
Feature /change: ctgctgagga gagtctgccc attgaggtca tggtggatgc
Feature /change: cgttcacaag ctcaagtatg aaaactacac cagcagcttc
Feature /change: ttcatcaggg acatcatcaa acctgaccca cccaagaact
Feature /change: tgcagctgaa gccattaaag aattctcggc aggtggaggt
Feature /change: cagctgggag taccctgaca cctggagtac tccacattcc
Feature /change: tacttctccc tgacattctg cgttcaggtc cagggcaaga
Feature /change: gcaagagaga aaa
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 524..896
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 161..285
Feature /change: GSSDPQGVTC GAATLSAERV RGDNKEYEYS VECQEDSACP
Feature /change: AAEESLPIEV MVDAVHKLKY ENYTSSFFIR DIIKPDPPKN
Feature /change: LQLKPLKNSR QVEVSWEYPD TWSTPHSYFS LTFCVQVQGK
Feature /change: SKREK
Feature /change: ->
Feature /change: GKIESSRTRP QPRSSAAKMP ALACGPRTAT IAHLGANGHL
Feature /change: CPAVRFX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes; infection: 3
Symptoms months after BCG immunization she presented with local
Symptoms ulceration of her immunization site on her left deltoid
Symptoms region, regional lymphadenopathy, and a discharging
Symptoms sinus
Symptoms Salmonella infections:
Symptoms S. enteriditis; severe gastroenteritis with bloody
Symptoms diarrhea and septicemia
Sex XX
Ethnic origin Pakistan
Parents Consanguineous
Relative Parents are heterozygous for the deletion.
Comment The father suffered in childhood of severe and recurrent
Comment nontyphi salmonella (S. bareilly) infection.
//
ID #G161X207(2),#G161X207(2); standard; MUTATION;
Accession I0002
Systematic name Allele 1 and 2: g.10521_10893del, c.482_854del,
Systematic name r.482_854del, p.Ser162fsX45
Original code Patient B.II.3
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Date 09-Sep-2003 (Rel. 1, Created)
Date 09-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11753820
RefAuthors Picard, C., Fieschi, C., Altare, F., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Feinberg, J., Dupuis, S., Soudais, C., Al-
RefAuthors Mohsen, I. Z., Genin, E., Lammas, D., Kumararatne, D. S.,
RefAuthors Leclerc, T., Rafii, A., Frayha, H., Murugasu, B., Wah, L.
RefAuthors B., Sinniah, R., Loubser, M., Okamoto, E., Al-Ghonaium,
RefAuthors A., Tufenkeji, H., Abel, L., Casanova, J. L.
RefTitle Inherited interleukin-12 deficiency: IL12B genotype and
RefTitle clinical phenotype of 13 patients from six kindreds.
RefLoc Am J Hum Genet 70:336-348 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 10521..10893
Feature /change: -gctcttctga cccccaaggg gtgacgtgcg gagctgctac
Feature /change: actctctgca gagagagtca gaggggacaa caaggagtat
Feature /change: gagtactcag tggagtgcca ggaggacagt gcctgcccag
Feature /change: ctgctgagga gagtctgccc attgaggtca tggtggatgc
Feature /change: cgttcacaag ctcaagtatg aaaactacac cagcagcttc
Feature /change: ttcatcaggg acatcatcaa acctgaccca cccaagaact
Feature /change: tgcagctgaa gccattaaag aattctcggc aggtggaggt
Feature /change: cagctgggag taccctgaca cctggagtac tccacattcc
Feature /change: tacttctccc tgacattctg cgttcaggtc cagggcaaga
Feature /change: gcaagagaga aaa
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 524..896
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 161..285
Feature /change: GSSDPQGVTC GAATLSAERV RGDNKEYEYS VECQEDSACP
Feature /change: AAEESLPIEV MVDAVHKLKY ENYTSSFFIR DIIKPDPPKN
Feature /change: LQLKPLKNSR QVEVSWEYPD TWSTPHSYFS LTFCVQVQGK
Feature /change: SKREK
Feature /change: ->
Feature /change: GKIESSRTRP QPRSSAAKMP ALACGPRTAT IAHLGANGHL
Feature /change: CPAVRFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0047: 10521..10893
Feature /change: -gctcttctga cccccaaggg gtgacgtgcg gagctgctac
Feature /change: actctctgca gagagagtca gaggggacaa caaggagtat
Feature /change: gagtactcag tggagtgcca ggaggacagt gcctgcccag
Feature /change: ctgctgagga gagtctgccc attgaggtca tggtggatgc
Feature /change: cgttcacaag ctcaagtatg aaaactacac cagcagcttc
Feature /change: ttcatcaggg acatcatcaa acctgaccca cccaagaact
Feature /change: tgcagctgaa gccattaaag aattctcggc aggtggaggt
Feature /change: cagctgggag taccctgaca cctggagtac tccacattcc
Feature /change: tacttctccc tgacattctg cgttcaggtc cagggcaaga
Feature /change: gcaagagaga aaa
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0047: 524..896
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29460; IL12B_HUMAN: 161..285
Feature /change: GSSDPQGVTC GAATLSAERV RGDNKEYEYS VECQEDSACP
Feature /change: AAEESLPIEV MVDAVHKLKY ENYTSSFFIR DIIKPDPPKN
Feature /change: LQLKPLKNSR QVEVSWEYPD TWSTPHSYFS LTFCVQVQGK
Feature /change: SKREK
Feature /change: ->
Feature /change: GKIESSRTRP QPRSSAAKMP ALACGPRTAT IAHLGANGHL
Feature /change: CPAVRFX
Symptoms BCG vaccination:
Symptoms BCG vaccinated: No
Symptoms Salmonella infections:
Symptoms S. enteriditis; disseminated infection
Sex XX
Ethnic origin India
Parents Consanguineous
Comment Sister died at age 5 yr of disseminated BCG infection
//
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