Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is a rare, X-linked primary immunodeficiency disorder primarily affecting males, caused by hemizygous pathogenic variants in the *WAS* gene This gene defect leads to a deficiency or absence of the Wiskott-Aldrich syndrome protein (WASP), an essential regulator of actin cytoskeleton remodeling in hematopoietic lineages Pathophysiologically, this impairment disrupts leukocyte activation and signaling, compromises platelet morphogenesis, and leads to accelerated platelet cl...

Wiskott-Aldrich syndrome is a rare, X-linked primary immunodeficiency disorder primarily affecting males, caused by hemizygous pathogenic variants in the *WAS* gene Clinically, the condition is classically defined by the triad of microthrombocytopenia with abnormally small platelets, recurrent pyogenic and viral infections due to combined humoral and cellular immunodeficiency, and atopic eczema, alongside heightened lifetime risks for autoimmune cytopenias and hematologic malignancies

This gene defect leads to a deficiency or absence of the Wiskott-Aldrich syndrome protein (WASP), an essential regulator of actin cytoskeleton remodeling in hematopoietic lineages Pathophysiologically, this impairment disrupts leukocyte activation and signaling, compromises platelet morphogenesis, and leads to accelerated platelet clearance

Clinically, the condition is classically defined by the triad of microthrombocytopenia with abnormally small platelets, recurrent pyogenic and viral infections due to combined humoral and cellular immunodeficiency, and atopic eczema, alongside heightened lifetime risks for autoimmune cytopenias and hematologic malignancies