Wiskott-Aldrich syndrome
X-linked immunodeficiency characterized by thrombocytopenia with small platelets, eczema, and recurrent infections.
Full Definition
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WASP gene, which encodes a protein essential for cytoskeletal organization in hematopoietic cells. The classic triad includes microthrombocytopenia (small, dysfunctional platelets), severe eczema, and immunodeficiency with recurrent infections. Patients have increased risk of autoimmune disorders and malignancies, particularly lymphomas. The condition affects multiple cell lineages including T-cells, B-cells, platelets, and dendritic cells, leading to progressive immunodeficiency and bleeding complications.
Usage
Usage note: Often abbreviated as WAS; platelet size is characteristically small in this condition.
In Context
- "The combination of microthrombocytopenia, severe eczema, and recurrent infections suggested Wiskott-Aldrich syndrome." — Clinical assessment
- "Flow cytometry showed absent WASP protein expression, confirming the diagnosis of Wiskott-Aldrich syndrome." — Immunology report