Table 2.
Comparison of age and clinical features between probands with AIRE mutations and probands with suspected autoimmune polyendocrine syndrome type 1 (APS-1) who do not harbour an AIRE mutation.
| Clinical features | Mutation-positive probandsa | Mutation-negative probandsa |
|---|---|---|
| n | 30 | 90 |
| Age (years)b | 17.0 ± 14.7 | 23.1 ± 19.5 |
| ≥2 components of APS-1 disease triad | 47% | 16%* |
| Endocrine features | ||
| Hypoparathyroidism | 87% | 32%*** |
| Adrenal insufficiency | 33% | 44% |
| Type 1 diabetes | 3% | 29%** |
| Hypothyroidism | 7% | 37%** |
| Premature ovarian failure | 7% | 2% |
| Oral, skin, or nail features | ||
| Candidiasis | 27% | 22% |
| Enamel hypoplasia | 7% | 3% |
| Nail dystrophy/infections | 3% | 3% |
| Alopecia | 7% | 6% |
| Vitiligo | 3% | 9% |
| Gastrointestinal features | ||
| Autoimmune hepatitis | 7% | 7% |
| Vitamin B12 deficiency | 0% | 2% |
| Enteropathy/intestinal dysfunction | 3% | 1% |
| Pancreatic insufficiency | 3% | 0% |
| Renal features | ||
| Tubulointerstitial nephritis | 3% | 0% |
Differences in age were analysed using unpaired t-test with Welch’s correction for unequal variances. Differences in the proportions of clinical features were analysed using chi square test.
*P < 0.05, **P < 0.01, ***P < 0.0001 for a comparison of mutation-positive and mutation-negative probands. aNumber of probands with available clinical details. bAge was shown as mean ± s.d.
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