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Pathology · Inflammation: leukocyte adhesion deficiency
Sample itemA 3-week-old infant still has an unseparated umbilical stump with surrounding erythema. There is no pus at the site, yet the blood count shows a total leukocyte count of 45,000 per microlitre with marked neutrophilia. Which molecular defect is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Deficiency of the CD18 beta-2 integrin subunit on leukocytes
Leukocyte adhesion deficiency type 1 results from mutations in the CD18 subunit shared by LFA-1 and Mac-1. Neutrophils cannot adhere firmly to endothelium and so cannot leave the vessels, which produces a very high circulating count but no pus at the infected site. Delayed separation of the umbilical cord is the classic early sign.
Option by option
A. Deficiency of the CD18 beta-2 integrin subunit on leukocytes (correct)
Correct. Loss of beta-2 integrins blocks firm adhesion and transmigration, so neutrophils accumulate in blood and not in tissue.
B. Defective lysosomal trafficking regulator protein
A lysosomal trafficking regulator defect causes Chediak-Higashi syndrome with giant granules and partial albinism.
C. Deficiency of NADPH oxidase in phagocytes
NADPH oxidase deficiency causes chronic granulomatous disease, where neutrophils reach the site but cannot kill catalase-positive organisms.
D. Absence of the C3 component of complement
C3 deficiency causes recurrent severe pyogenic infections with pus formation, and does not delay cord separation.
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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