ウィスコット・アルドリッチ症候群

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.

免疫系疾患

(WAS1) WAS [HSA:7454] [KO:K05747]
(WAS2) WIPF1 [HSA:7456] [KO:K19475]

シクロホスファミド水和物 [DR:D00287]

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.

PMID:8069912 (WAS)

PMID:22231303 (WIPF1)