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An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.
Data assembled from 1 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC
Genetic and Rare Diseases Info Center