Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder characterized by a classic triad:
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Eczema (an atopic, itchy skin condition)
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Thrombocytopenia (low platelet count, leading to bleeding)
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Recurrent infections due to combined B-cell and T-cell immune dysfunction
Let’s break down each option:
✅ B) Associated with WASP gene – TRUE
The syndrome is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich Syndrome Protein (WASP). This protein is essential for actin cytoskeleton reorganization in hematopoietic cells, affecting immune cell movement, signaling, and phagocytosis.
✅ C) Causes patches across skin – TRUE
Although this statement is slightly vague, it’s likely referring to eczema, which appears as red, scaly, and itchy patches on the skin, commonly seen in patients with WAS. So, while not the most precise phrasing, it’s a reasonable description and therefore not the wrong statement.
✅ D) It is an immune deficiency – TRUE
WAS is classified as a primary immunodeficiency disorder. It affects both humoral and cell-mediated immunity, leading to frequent bacterial, viral, and fungal infections.
✅ E) Associated with T-cell defects – TRUE
Indeed, T-cell function is impaired in WAS. There is defective immunological synapse formation, decreased cytokine production, and impaired cytoskeletal dynamics in T cells, contributing to the immune dysfunction.
❌ A) It is X-linked dominant – FALSE
This is the incorrect statement.
Wiskott-Aldrich syndrome is X-linked recessive, not dominant. This means it predominantly affects males, while females are usually carriers.
In X-linked recessive conditions: