antigen-peptide-transporter 2 deficiency
MONDO:0022468Mondo
Findings
No curated finding names antigen-peptide-transporter 2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0022468), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: antigen-peptide-transporter 2 deficiency
- Also called
- antigen processing (TAP) deficiency syndrome