What is Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder that primarily affects the immune system and blood clotting. It is characterized by a triad of symptoms including eczema (a chronic skin condition), recurrent infections, and abnormal bleeding.

Individuals with Wiskott-Aldrich syndrome have a mutation in the Wiskott-Aldrich syndrome protein (WASP) gene, which plays a crucial role in the functioning of immune cells, particularly platelets and lymphocytes. As a result, their immune system is compromised, making them more susceptible to infections caused by bacteria, viruses, and fungi.

Furthermore, the abnormal platelet function in WAS leads to easy bruising, nosebleeds, and gastrointestinal bleeding. The severity of symptoms can vary widely among affected individuals, ranging from mild to life-threatening.

Wiskott-Aldrich syndrome is typically diagnosed in early childhood and requires lifelong management. Treatment options include antibiotics to prevent and treat infections, immunoglobulin replacement therapy to boost the immune system, and platelet transfusions to manage bleeding episodes. In severe cases, a stem cell transplant may be considered as a potential cure.