Database BIRC4base
Version 1.0
File birc4pub.html
Date 08-Apr-2013
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/BIRC4base/
Gene BIRC4
Disease X-linked lymphoproliferative syndrome
OMIM 300079
Sequence IDRefSeq:D0120; IDRefSeq:C0120; UniProt:P98170
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #L98X129(1a); standard; MUTATION;
Accession B0001
Systematic name g.26757delC, c.292delC, r.292delc, p.Glu99fsX31
Original code P1.1
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0120: 26757
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120: 420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 98
Feature /change: L -> LKIVPRSLQI LVSRMVSTKL KTIWEAEIIL PX
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, recurrent
Symptoms haemophagocytic lymphohistiocytosis, colitis
Age 4
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0002 brother
Relative BIRC4base; B0003 first cousin once removed
Relative BIRC4base; B0004 first cousin once removed
Relative BIRC4base; B0005 first cousin once removed
//
ID #L98X129(1b); standard; MUTATION;
Accession B0002
Systematic name g.26757delC, c.292delC, r.292delc, p.Glu99fsX31
Original code P1.2
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0120: 26757
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120: 420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 98
Feature /change: L -> LKIVPRSLQI LVSRMVSTKL KTIWEAEIIL PX
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, recurrent
Symptoms haemophagocytic lymphohistiocytosis
Age 3
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0001 brother
Relative BIRC4base; B0003 first cousin once removed
Relative BIRC4base; B0004 first cousin once removed
Relative BIRC4base; B0005 first cousin once removed
//
ID #L98X129(1c); standard; MUTATION;
Accession B0003
Systematic name g.26757delC, c.292delC, r.292delc, p.Glu99fsX31
Original code P1.5
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0120: 26757
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120: 420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 98
Feature /change: L -> LKIVPRSLQI LVSRMVSTKL KTIWEAEIIL PX
Protein exp. Absent
Symptoms EBV infection, recurrent haemophagocytic
Symptoms lymphohistiocytosis
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0001 first cousin once removed
Relative BIRC4base; B0002 first cousin once removed
Relative BIRC4base; B0004 brother
Relative BIRC4base; B0005 brother
//
ID #L98X129(1d); standard; MUTATION;
Accession B0004
Systematic name g.26757delC, c.292delC, r.292delc, p.Glu99fsX31
Original code P1.6
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0120: 26757
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120: 420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 98
Feature /change: L -> LKIVPRSLQI LVSRMVSTKL KTIWEAEIIL PX
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, recurrent
Symptoms haemophagocytic lymphohistiocytosis
Age 2,5
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0001 first cousin once removed
Relative BIRC4base; B0002 first cousin once removed
Relative BIRC4base; B0003 brother
Relative BIRC4base; B0005 brother
//
ID #L98X129(1e); standard; MUTATION;
Accession B0005
Systematic name g.26757delC, c.292delC, r.292delc, p.Glu99fsX31
Original code P1.7
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0120: 26757
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120: 420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 98
Feature /change: L -> LKIVPRSLQI LVSRMVSTKL KTIWEAEIIL PX
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, recurrent
Symptoms haemophagocytic lymphohistiocytosis, hypogammaglobulinemia
Age 5
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0001 first cousin once removed
Relative BIRC4base; B0002 first cousin once removed
Relative BIRC4base; B0003 brother
Relative BIRC4base; B0004 brother
//
ID Q104X(1); standard; MUTATION;
Accession B0019
Systematic name g.26775C>T, c.310C>T, r.310c>u, p.Gln104X
Original code P.9
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 26775
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 438
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 104
Feature /change: Q -> X
Symptoms Fever; Splenomegaly; Hepatitis; Bicytopenia;
Symptoms Hypertriglyceridemia; Hypofibrinogenemia;
Symptoms Hemophagocytosis;Hyperferritinemia; EBV-associated HLH;
Age 8
Family history Inherited
Treatment Rituximab
Status Deceased
//
ID E118X(1); standard; MUTATION;
Accession B0006
Systematic name g.26817G>T, c.352G>T, r.352g>u, p.Glu118X
Original code P3.3
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 26817
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0120: 480
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 118
Feature /change: E -> X
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, hypogammaglobulinemia
Age 22
Sex XY
Ethnic origin Caucasoid
Family history Inherited
//
ID G188E(1); standard; MUTATION;
Accession B0016
Systematic name g.27028G>A, c.563G>A, r.563g>a, p.Gly188Glu
Original code P.5
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 27028
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 691
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 188
Feature /change: G -> E
Symptoms Fever; Splenomegaly; Hepatitis; Hemophagocytosis;
Symptoms Hypertriglyceridemia; Hypofibrinogenemia; Bicytopenia;
Symptoms Hyperferritinemia;
Age 0
Family history De novo
Treatment Etanercept
Status Deceased
//
ID @Y290X294(1); standard; MUTATION;
Accession B0017
Systematic name g.27333dupT, c.868dupT, r.868dupu, p.Tyr290fsX5
Original code P.6
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0120: 27334
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 290
Feature /change: Y -> LCFRX
Symptoms Fever; Splenomegaly; Hepatitis; Bicytopenia;
Symptoms Hypertriglyceridemia; Hypofibrinogenemia;
Symptoms Hyperferritinemia; EBV and CMV-associated HLH;
Age 4
Family history De novo
Status Alive
//
ID Q333X(1); standard; MUTATION;
Accession B0018
Systematic name g.32060C>T, c.997C>T, r.997c>u, p.Gln333X
Original code P.7
Description A point mutation in the exon 4 leading to a premature stop
Description codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 32060
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 1125
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 333
Feature /change: Q -> X
Symptoms Fever; Splenomegaly; Hepatitis; Bicytopenia;
Age 6
Family history De novo
Status Alive
//
ID N340S(1); standard; MUTATION;
Accession B0010
Systematic name g.32082A>G, c.1019A>G, r.1019a>g, p.Asn340Ser
Original code P.30
Description A point mutation in the exon 4 leading to an amino acid
Description change
Date 29-Jul-2010 (Rel. 1, Created)
Date 29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20517649
RefAuthors Weiss, K. H., Runz, H., Noe, B., Gotthardt, D. N., Merle,
RefAuthors U., Ferenci, P., Stremmel, W., Fullekrug, J.
RefTitle Genetic analysis of BIRC4/XIAP as a putative modifier gene
RefTitle of wilson disease.
RefLoc J Inherit Metab Dis:g (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 32082
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 1147
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 340
Feature /change: N -> S
Symptoms Kayser-Fleischer ring; Hepatic manifestations;
Age 5.4
Sex XY
Family history Inherited
//
ID T470S(1); standard; MUTATION;
Accession B0009
Systematic name g.47898A>T, c.1408A>T, r.1408a>u, p.Thr470Ser
Original code P.7
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 29-Jul-2010 (Rel. 1, Created)
Date 29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20517649
RefAuthors Weiss, K. H., Runz, H., Noe, B., Gotthardt, D. N., Merle,
RefAuthors U., Ferenci, P., Stremmel, W., Fullekrug, J.
RefTitle Genetic analysis of BIRC4/XIAP as a putative modifier gene
RefTitle of wilson disease.
RefLoc J Inherit Metab Dis:g (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 47898
Feature /change: a -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 1536
Feature /codon: act -> tct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 470
Feature /change: T -> S
Symptoms Hepatic manifestations;
Age 5.08
Sex XX
//
ID P482R(1); standard; MUTATION;
Accession B0014
Systematic name g.47935C>G, c.1445C>G, r.1445c>g, p.Pro482Arg
Original code P.3
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 47935
Feature /change: c -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 1573
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 482
Feature /change: P -> R
Symptoms Fever; Splenomegaly; Hepatitis; Bicytopenia;
Symptoms Hypertriglyceridemia; Hypofibrinogenemia; Seizure;
Symptoms Hyperferritinemia; Hemophagocytosis;
Age 0
Family history De novo
Status Deceased
//
ID I494N(1); standard; MUTATION;
Accession B0015
Systematic name g.47971T>A, c.1481T>A, r.1481u>a, p.Ile494Asn
Original code P.4
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0120: 47971
Feature /change: t -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0120; ; BIRC4C: 1609
Feature /codon: att -> aat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P98170; BIRC4_HUMAN: 494
Feature /change: I -> N
Symptoms Fever; Splenomegaly; Hepatitis; Hemophagocytosis;
Symptoms Hypertriglyceridemia; Hypofibrinogenemia; Bicytopenia;
Symptoms Hyperferritinemia;
Age 0
Family history De novo
Treatment Alemtuzumab
Status Alive
//
ID Deletion(1a); standard; MUTATION;
Accession B0007
Original code P2.1
Description A 2,606 bp deletion encompassing exon 3
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, hypogammaglobulinemia
Age 1
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0008; cousin
//
ID Deletion(1b); standard; MUTATION;
Accession B0008
Original code P2.2
Description A 2,606 bp deletion encompassing exon 3
Date 28-Aug-2007 (Rel. 1, Created)
Date 28-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17080092
RefAuthors Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B.,
RefAuthors Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-
RefAuthors Laucat, F., Revy, P., Fischer, A., de Saint Basile, G.,
RefAuthors Latour, S.
RefTitle XIAP deficiency in humans causes an X-linked
RefTitle lymphoproliferative syndrome.
RefLoc Nature:110-114 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein exp. Absent
Symptoms Hepatosplenomegaly, EBV infection, hypogammaglobulinemia
Age 6
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative BIRC4base; B0007; cousin
//
ID Deletion(2); standard; MUTATION;
Accession B0011
Systematic name c.1100-?_1300+?del
Original code P.1
Description Deletion of exon 6
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Recurrent HLH; Fever; Splenomegaly; Hepatitis;
Symptoms Bicytopenia; Hypertriglyceridemia; Hypofibrinogenemia;
Symptoms Hyperferritinemia;
Age 0
Family history Inherited
Treatment Liver transplantation; Tacrolimus; Prednisone;
Status Alive
//
ID Deletion(3a); standard; MUTATION;
Accession B0012
Systematic name c.1-?_1099+?del
Original code P.2
Description Deletion of exons 1_5
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1_5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Recurrent HLH; Fever; Splenomegaly; Hepatitis;
Symptoms Bicytopenia; Hypertriglyceridemia; Hypofibrinogenemia;
Symptoms Hyperferritinemia; Hemophagocytosis; CMV-associated HLH;
Age 0
Family history Inherited
Relative BIRC4base; B0013;
Treatment Cyclosporine; Prednisone;
Status Alive
//
ID Deletion(3b); standard; MUTATION;
Accession B0013
Systematic name c.1-?_1099+?del
Original code P.8
Description Deletion of exons 1_5
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20489057
RefAuthors Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R.,
RefAuthors McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K.,
RefAuthors Filipovich, A. H.
RefTitle XIAP deficiency: a unique primary immunodeficiency best
RefTitle classified as X-linked familial hemophagocytic
RefTitle lymphohistiocytosis and not as X-linked
RefTitle lymphoproliferative disease.
RefLoc Blood:XIAP deficiency: a unique primary immunodeficiency
RefLoc best classified as X-linked familial hemophagocytic
RefLoc lymphohistiocytosis and not as X-linked
RefLoc lymphoproliferative disease. (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1_5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Recurrent cytopenia; Fever; Splenomegaly; Bicytopenia;
Symptoms EBV-associated HLH; Prolonged viral illness;
Age 0
Family history Inherited
Relative BIRC4base; B0012;
Status Alive
//
//
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