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Entry | Name | Description | Category | Pathway | Gene |
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H00107 | Other well-defined immunodeficiency syndromes | ... X-linked inhibitor of apoptosis (XIAP) as well as in a distinct gene, SLAM-associated protein (SAP/DSP1/SH2D1A) have been identified in patients with XLP. Recently, it has been shown that a homozygous mutation ... | Primary immunodeficiency |
WAS [HSA:7454] [KO:K05747] TBX1 [HSA:6899] [KO:K10175] STAT3 [HSA:6774] [KO:K04692] TYK2 [HSA:7297] [KO:K11219] SH2D1A [HSA:4068] [KO:K07990] XIAP [HSA:331] [KO:K04725] ITK [HSA:3702] [KO:K07363] AIRE [HSA:326] [KO:K10603] FOXP3 [HSA:50943] [KO:K10163] RMRP [HSA:6023] [KO:K14576] |
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H01969 |
X-linked lymphoproliferative syndrome Duncan disease |
... 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 ... | Primary immunodeficiency |
(XLP1) SH2D1A [HSA:4068] [KO:K07990] (XLP2) XIAP [HSA:331] [KO:K04725] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |