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Pathology · Immunodeficiency: Chediak-Higashi
Sample itemA child has recurrent pyogenic infections, partial albinism, peripheral neuropathy, and giant granules in leukocytes. What defect is likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Chediak-Higashi syndrome
Chediak-Higashi syndrome is a lysosomal trafficking defect causing impaired phagolysosome function, giant granules in leukocytes, partial albinism, and neuropathy. It can progress to an accelerated inflammatory phase.
Option by option
A. Bruton agammaglobulinemia
Bruton disease causes absent mature B cells and recurrent bacterial infections.
B. Chediak-Higashi syndrome (correct)
Correct. The combination of albinism and giant granules is distinctive.
C. DiGeorge syndrome
DiGeorge syndrome causes T-cell deficiency with hypocalcemia and conotruncal defects.
D. Leukocyte adhesion deficiency
LAD causes delayed cord separation and absent pus.
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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