WiskottAldrichSyndrom

Wiskott-Aldrich syndrome (WAS) is a rare, X-linked recessive disorder characterized by a classic triad of symptoms: thrombocytopenia (low platelet count), eczema, and recurrent infections. The underlying cause is a mutation in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASP). This protein plays a crucial role in the cytoskeleton of hematopoietic cells, influencing cell shape, motility, and signaling.

Individuals with WAS typically present in infancy or early childhood with symptoms such as easy bruising, bleeding, and a tendency for petechiae (small red or purple spots caused by bleeding into the skin). The eczema associated with WAS is often severe and widespread. The immune deficiency makes patients highly susceptible to bacterial, viral, and fungal infections, which can be life-threatening. Over time, individuals with WAS have an increased risk of developing autoimmune disorders and certain malignancies, particularly lymphomas and leukemias.

Diagnosis is usually made based on clinical presentation and confirmed by genetic testing to identify mutations in the WAS gene. Measurement of WASP protein expression in blood cells is also a key diagnostic tool. Treatment is primarily supportive, focusing on managing bleeding episodes, treating infections, and controlling eczema. Hematopoietic stem cell transplantation (HSCT) is currently the only curative option for WAS and is recommended for patients with severe disease. Gene therapy approaches are also under investigation as potential future treatments.