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Antigen-peptide-transporter 2 deficiency

MONDO:0022468

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.

Also known as: antigen processing (TAP) deficiency syndrome, TAP 2 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Antigen-peptide-transporter 2 deficiency itself.

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↑ Inborn errors of metabolism (2228)

Including sub-types (0) Tagged with Antigen-peptide-transporter 2 deficiency (0)

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