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.