 | DISEASE: Wiskott-Aldrich syndrome | Help |
| Entry | |
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| Name | Wiskott-Aldrich syndrome |
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| Supergrp | Other well-defined immunodeficiency syndromes [DS:H00107]Primary immunodeficiency disease [DS:H01725] |
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| Description | The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Recent research suggested that the WIPF1-encoded protein WIP binds to the region of WASP which is frequently mutated in patients with this disease, and WIP mutations themselves lead to an immunological disorder resembling Wiskott-Aldrich syndrome. |
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| Category | Immune system disease |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura or other haemorrhagic or related conditions 3B62 Qualitative platelet defects H01523 Wiskott-Aldrich syndrome BRITE hierarchy |
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| Pathway | |
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| Gene | (WAS1) WAS [HSA:7454] [KO:K05747] (WAS2) WIPF1 [HSA:7456] [KO:K19475] |
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| Comment | X-linked thrombocytopenia (H00978) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. See also H00107 Other well-defined immunodeficiency syndromes. |
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| Other DBs | |
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| Reference | PMID:8069912 (WAS) |
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| Authors | Derry JM, Ochs HD, Francke U |
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| Title | Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. |
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| Journal | Cell 78:635-44 (1994)DOI:10.1016/0092-8674(94)90528-2 |
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| Reference | PMID:22231303 (WIPF1) |
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| Authors | Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S |
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| Title | A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. |
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| Journal | J Exp Med 209:29-34 (2012)DOI:10.1084/jem.20110896 |
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