Dr. Sumana Chowdhury3 months ago

Wiskott-Aldrich Syndrome

It is an X-linked recessive disorder, characterized by a triad of recurrent infections, thrombocytopenia and eczema. Pathogenesis: WASP mutation leading to defective migration of hematopoietic stem cells to the bone marrow, resulting in: 1. No T-cells, causing decline in Cell mediated immunity leading to recurrent infections. 2. Decreased megakaryocytes in bone marrow causing thrombocytopenia. 3. Increase in IgA and IgE causing Eczema, Atopic dermatitis. Treatment: Allogenic Bone Marrow Transplant.