A newborn boy has delayed separation of the umbilical cord beyond three weeks, followed by recurrent infections without pus formation. Flow cytometry shows normal neutrophil counts but absent expression of beta-2 integrins (CD11/CD18) on leukocytes. What is the diagnosis?
- A Chronic granulomatous disease
- B Myeloperoxidase deficiency
- C Leukocyte adhesion deficiency type 1 ✓
- D Chediak-Higashi syndrome
Correct answer: C. Leukocyte adhesion deficiency type 1
Explanation
Leukocyte adhesion deficiency type 1 arises from mutations in the ITGB2 gene encoding CD18, the common beta chain of beta-2 integrins (LFA-1, Mac-1). Without these adhesion molecules, neutrophils cannot adhere to endothelium or migrate into tissues, so infections lack pus and wounds heal poorly. Delayed umbilical cord separation is the classic clue. In chronic granulomatous disease the NBT test is abnormal, and Chediak-Higashi shows giant granules, neither of which is described here.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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