Wiskott-Aldrich Syndrome

Alternative Names

  • WAS
  • Wiskott-Aldrich Syndrome 1
  • WAS1
  • Aldrich Syndrome
  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome
  • Immunodeficiency 2
  • IMD2

Associated Genes

WAS Gene
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

301000

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xp11.23

Description

Wiskott-Aldrich syndrome (WAS) is a very rare, serious, and potentially life-threatening immunodeficiency disease, characterized by thrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and hematologic malignancies. Children with WAS are diagnosed most commonly in the first 1-2 years of life because of excessive bleeding, eczema, and frequent bacterial or viral infections.

Wiskott-Aldrich syndrome is caused by mutations in the in the WAS gene (Xp11.4-p11.21), coding for a protein, now termed Wiskott-Aldrich syndrome protein (WASp), exclusively expressed in hematopoietic cells. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
301000.2.1LebanonMaleYesYes Thrombocytopenia; Recurrent infections... NM_000377.3:c.134C>THemizygousX-linked, RecessiveMansour et al, 2020
301000.2.2LebanonMaleYesYes Thrombocytopenia; Recurrent infections... NM_000377.3:c.134C>THemizygousX-linked, RecessiveMansour et al, 2020 Brother of 301000.2....
301000.2.3LebanonMaleYesYes Thrombocytopenia; Recurrent infections... NM_000377.3:c.134C>THemizygousX-linked, RecessiveMansour et al, 2020 Brother of 301000.2....
301000.2.4LebanonMaleYesYes Thrombocytopenia; Recurrent infections... NM_000377.3:c.134C>THemizygousX-linked, RecessiveMansour et al, 2020 Brother of 301000.2....
301000.1.1Saudi ArabiaMaleYes Abnormal bleeding; Petechiae; Abnormal... NM_000377.2:c.559+5G>CHemizygousX-linked, RecessiveAbu-Amero et al. 2004 Sibling of 301000.1....
301000.1.2Saudi ArabiaMaleYes Prolonged bleeding following circumcisio... NM_000377.2:c.559+5G>CHemizygousX-linked, RecessiveAbu-Amero et al. 2004 Sibling of 301000.1....
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