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Physiology · Blood and immunity: Wiskott-Aldrich syndrome
Sample itemA 2-year-old boy has eczema, recurrent ear infections and bleeding with a low platelet count and unusually small platelets. A mutation in a protein regulating which cellular structure is responsible?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Actin cytoskeleton
Wiskott-Aldrich syndrome is an X-linked disorder of the WAS protein, which organises the actin cytoskeleton in haematopoietic cells. This impairs platelet formation, T cell function and immune synapse formation, causing the triad of thrombocytopenia with small platelets, eczema and infections.
Option by option
A. Microtubules
Microtubule and dynein defects cause disorders such as Kartagener syndrome, not this triad.
B. Actin cytoskeleton (correct)
Correct. The WAS protein regulates actin polymerisation in blood cells.
C. Intermediate filaments
Intermediate filaments such as keratin are not the defect in this syndrome.
D. Nuclear lamina
Nuclear lamina defects cause laminopathies, not this triad.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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