Wiskott–Aldrich syndrome

Wiskott–Aldrich syndrome
A) Multiple face petechiae and a hematoma under the right eye (left in image).
B) Eczema of the foot.
SpecialtyImmunology 

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia).[1] It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954.[2] The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene.

  1. ^ "Wiskott–Aldrich syndrome". Genetics Home Reference. Retrieved 2016-06-26.
  2. ^ Aldrich RA, Steinberg AG, Campbell DC (February 1954). "Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea". Pediatrics. 13 (2): 133–9. doi:10.1542/peds.13.2.133. PMID 13133561.
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