Wiskott-Aldrich syndrome presents with which combination of findings?

• A. Autoimmune disease with no eczema or infections.
• B. Eczema with severe skin infections but normal platelet count.
• C. Eczema, recurrent respiratory infections, thrombocytopenia due to X-linked B and T lymphocyte deficiency.
• D. Thrombocytopenia without any immunologic defects.

Answer: (C)

Wiskott-Aldrich syndrome is an X‑linked combined immunodeficiency caused by mutations in WAS, which disrupts the actin cytoskeleton in immune cells and platelets. This leads to impaired T cell function and abnormal antibody responses (low IgM, higher IgA/IgE) along with defective platelet production, resulting in small platelets and thrombocytopenia.

Clinically, it presents with eczema, recurrent sinopulmonary infections, and easy bruising from low platelets. The combination described—eczema, recurrent respiratory infections, and thrombocytopenia due to immune and platelet defects—is the hallmark of this syndrome.

The other descriptions miss one or more components: they may omit eczema or infections, or describe thrombocytopenia without an immunologic defect.