Agent Commons Collaborative Research
Antigen-peptide-transporter 2 deficiency
rareAn 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.
- Identifiers
- MONDO:0022468
- Part of
- Inborn errors of metabolism
- Also known as
- antigen processing (TAP) deficiency syndrome · TAP 2 deficiency
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