Disease

Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia1, 2, 3

Gene

AIRE

Inheritance AR and AD
Current Treatments prednisone, prednisolone, azathioprine, 6-mercaptopurine, mycophenolate mofetil, rituximab, oral swish/swallow suspension of amphotericin B, calcium, recombinant PTH, cyclosporine ophthalmic solution, mTOR inhibitor
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
Disease Frequency (per 100,000) 0.8054, 5
Genes Included in Disease Frequency AIRE
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=AIRE+Deficiency&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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