Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome is a rare inherited disorder that affects the immune system and blood cells. It primarily impacts the body's ability to fight infections and control bleeding. People with this condition often have small platelets, which can lead to easy bruising and bleeding. They also experience frequent infections due to a weakened immune system. Additionally, many develop eczema, a skin condition causing redness and itching. This syndrome mainly affects boys because it is linked to the X chromosome. Overall, it involves problems with the blood, immune system, and skin.

Wiskott-Aldrich Syndrome is an X-linked recessive primary immunodeficiency characterized by mutations in the WAS gene encoding the Wiskott-Aldrich Syndrome protein (WASP). This protein is crucial for actin cytoskeleton remodeling in hematopoietic cells, affecting immune cell signaling and platelet formation. The syndrome manifests with the triad of microthrombocytopenia, eczema, and recurrent infections due to combined immunodeficiency involving defective T cells, B cells, and impaired antibody responses. Patients are at increased risk for autoimmune disorders and malignancies, particularly lymphoma. The hallmark laboratory finding is small platelets with low platelet count. The clinical severity varies, but the underlying defect in cytoskeletal regulation leads to impaired immune synapse formation and defective platelet production, resulting in bleeding and immunodeficiency.