KEGG   DISEASE: X-linked lymphoproliferative syndromeHelp
Entry
H01969                      Disease                                

Name
X-linked lymphoproliferative syndrome;
Duncan disease
  Supergrp
Other well-defined immunodeficiency syndromes [DS:H00107]
Description
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr virus (EBV). Mutations in the SH2D1A/SAP gene, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Recently, mutations in the XIAP gene have been identified in patients with XLP.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01969  X-linked lymphoproliferative syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01969  X-linked lymphoproliferative syndrome
BRITE hierarchy
Pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04210  Apoptosis
Gene
(XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]
Pathogen
Human herpesvirus 4 (Epstein-Barr virus)
Other DBs
ICD-11: 4A01.22
ICD-10: D82.3
MeSH: D008232
OMIM: 308240 300635
Reference
  Authors
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB
  Title
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
  Journal
Blood 117:53-62 (2011)
DOI:10.1182/blood-2010-06-284935
Reference
  Authors
Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
  Title
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
  Journal
Hum Mol Genet 8:2407-13 (1999)
DOI:10.1093/hmg/8.13.2407
Reference
  Authors
Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S
  Title
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
  Journal
Nature 444:110-4 (2006)
DOI:10.1038/nature05257
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