KEGG   DISEASE: X連鎖性リンパ球増殖症候群
エントリ  
H01969                                                             

名称    
X連鎖性リンパ球増殖症候群;
Duncan 病
  上位グループ
他のよく定義された免疫不全症候群 [DS:H00107]
概要    
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.
カテゴリ  
原発性免疫不全症候群
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  原発性免疫不全症候群
   H01969  X連鎖性リンパ球増殖症候群
ICD-11 による疾患分類 [BR:jp08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01969  X連鎖性リンパ球増殖症候群
パスウェイ 
hsa04650  ナチュラルキラー細胞経由の細胞傷害
hsa04210  アポトーシス
病因遺伝子 
(XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]
病原体   
Human herpesvirus 4 (Epstein-Barr virus)
リンク   
ICD-11: 4A01.22
ICD-10: D82.3
MeSH: D008232
OMIM: 308240 300635
文献    
  著者
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
  タイトル
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
  雑誌
Blood 117:53-62 (2011)
DOI:10.1182/blood-2010-06-284935
文献    
  著者
Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
  タイトル
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
  雑誌
Hum Mol Genet 8:2407-13 (1999)
DOI:10.1093/hmg/8.13.2407
文献    
  著者
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
  タイトル
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
  雑誌
Nature 444:110-4 (2006)
DOI:10.1038/nature05257
LinkDB    

» English version

DBGET integrated database retrieval system