Table 4.
AIRE gene mutations in the Italian population with APS-1
| AIRE gene mutations | Alleles affected (%) |
|---|---|
| R139X | 58/272 (21.3%) |
| R257X | 32/272 (11.8%) |
| W78R | 31/272 (11.4%) |
| C322fsX372 | 24/272 (8.8%) |
| T16M | 17/272 (6.2%) |
| R203X | 11/272 (4.0%) |
| A21V | 8/272 (2.9%) |
| Less frequent | 35/272 (12.9%) |
| R471C | 4/272 (1.5%) |
| 1085-1097del | 4/272 (1.5%) |
| IVS13 + 2insT | 4/272 (1.5%) |
| IVS1 + 5delG | 4/272 (1.5%) |
| P539L | 4/272 (1.5%) |
| C889T | 4/272 (1.5%) |
| L87P | 3/272 (1.1%) |
| S196S | 2/272 (0.7%) |
| C311fsX377 | 2/272 (0.7%) |
| C1314-1326del/insGT | 2/272 (0.7%) |
| C834C > G | 2/272 (0.7%) |
| Very rare | 26/272 (9.6%) |
| No mutations on both alleles in 11 patients and no mutation in 1 allele in other 8 cases | 30/272 (10.7%) |