Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Defects in WASP are the cause of Wiskott-Aldrich syndrome (WAS), an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. Two forms of WAS exist: a severe form culminating in early lymphoma, and a milder form compatible with survival to adult life. X-linked thrombocytopenia it is a mild variant with thrombocytopenia and without eczema and immune deficiency.

Alternative names

Aldrich-Dees syndrome

Aldrich-Wiskott syndrome

Wiskott's syndrome

Wiskott-Aldrich-Huntley syndrome

Wiskott-Aldrich-Dees syndrome

Aldrich's syndrome

Aldrich-Huntley syndrome

Wiskott-Aldrich syndrome protein

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

X-linked

OMIM

#301000 Wiskott-Aldrich syndrome; WAS

#313900 Thrombocytopenia1; THC1

300392 WAS gene; WAS

Cross references

Incidence

1: 20,000 births/year