Version July 2025
| Immune or genetic feature | Polyglandular autoimmune syndrome type 1 (APECED) | Isolated autoimmune adrenal insufficiency or polyglandular autoimmune syndrome type 2 |
| Presence of autoantibodies to: | ||
| CYP11A1 | 50 to 63% | <10% |
| CYP17 | Up to 50% | <10% |
| CYP21A2 | Up to 93% | Up to 84% |
| Associated HLA genotype(s) | ||
| Increased risk of AI | None | HLA B8, DR3, and DR4 alleles:
|
| Decreased risk of AI (in the presence of anti-CYP21A2 autoantibodies) | None | HLA-B15 with DR4 allele |
| MIC-A5.1 polymorphism (increased risk of AI) | No | Yes |
| Causal and susceptibility genes | AIRE (causal) | MHC2TA, CTLA-4, CYP27B1, NLRP-1, PDL-1, STAT4, NFATC1, and GATA3 (susceptibility) |
