KEGG   DISEASE: X-linked lymphoproliferative syndrome
H01969                      Disease                                
X-linked lymphoproliferative syndrome;
Duncan disease
Lymphoproliferative syndrome [DS:H01970]
Other well-defined immunodeficiency syndromes [DS:H00107]
Primary immunodeficiency disease [DS:H01725]
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.
Primary immunodeficiency
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
hsa04650  Natural killer cell mediated cytotoxicity
hsa04621  NOD-like receptor signaling pathway
hsa04215  Apoptosis
(XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]
Human herpesvirus 4 (Epstein-Barr virus)
Other DBs
ICD-11: 4A01.22
ICD-10: D82.3
MeSH: D008232
OMIM: 308240 300635
PMID:20926771 (XLP1)
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
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Blood 117:53-62 (2011)
PMID:10556288 (XLP1)
Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
Hum Mol Genet 8:2407-13 (1999)
PMID:17080092 (XLP2)
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
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Nature 444:110-4 (2006)

» Japanese version

DBGET integrated database retrieval system