antigen-peptide-transporter 2 deficiency
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.
MONDO:0019052
inborn errors of metabolism
is_a
TAP 2 deficiency
related
antigen processing (TAP) deficiency syndrome
exact