Contents

Search

Wiskott-Aldrich syndrome (eczema-thrombocytopenia-immunodeficiency syndrome)

Pathology: - congenital platelet defects Genetics: - X-linked recessive - associated with defects in WASP gene - other implicated genes - CD43 Clinical manifestations: - immunodeficiency, recurrent infections - eczema - bloody diarrhea - death usually occurs before age 10 Laboratory: - thrombocytopenia Management: - platelet transfusions for active bleeding as needed - epsilon-aminocaproic acid for active bleeding as needed [1]

General

mixed cellular & humoral immune dysfunction X-linked disease

Properties

ASSOCIATED-NEOPLASM[S]: lymphoma leukemia

Database Correlations

OMIM correlations

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 17, 18, American College of Physicians, Philadelphia 2015, 2018.
  2. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635-44 1994 PMID: 8069912