KEGG DISEASE: X-linked lymphoproliferative syndrome

DISEASE: X-linked lymphoproliferative syndrome

Entry

H01969                      Disease

Name

X-linked lymphoproliferative syndrome;
Duncan disease

Supergrp

Lymphoproliferative syndrome [DS:H01970]
Other well-defined immunodeficiency syndromes [DS:H00107]
Primary immunodeficiency disease [DS:H01725]

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06516  TNF signaling
   H01969  X-linked lymphoproliferative syndrome
Cellular process
  nt06527  Necroptosis
   H01969  X-linked lymphoproliferative syndrome

Pathway

hsa04668

TNF signaling pathway

hsa04217

Necroptosis

Network

nt06516 TNF signaling
nt06527 Necroptosis

Gene

(XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]

Pathogen

Human herpesvirus 4 (Epstein-Barr virus)

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20926771 (XLP1)

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

PMID:10556288 (XLP1)

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

PMID:17080092 (XLP2)

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

LinkDB

» Japanese version

DBGET integrated database retrieval system