KEGG DISEASE: Wiskott-Aldrich syndrome

KEGG

DISEASE: Wiskott-Aldrich syndrome

Entry

H01523                      Disease

Name

Wiskott-Aldrich syndrome

Supergrp

Other well-defined immunodeficiency syndromes [DS:H00107]
Primary immunodeficiency disease [DS:H01725]

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.

Category

Immune system disease

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

Pathway

Endocytosis

Gene

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

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.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

PMID:8069912 (WAS)

Authors

Derry JM, Ochs HD, Francke U

Title

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

Journal

Cell 78:635-44 (1994)
DOI:10.1016/0092-8674(94)90528-2

Reference

PMID:22231303 (WIPF1)

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

Title

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Journal

J Exp Med 209:29-34 (2012)
DOI:10.1084/jem.20110896

LinkDB

» Japanese version

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