| Gender | First manifestation/age of onset (years) | Later manifestations | Age of diagnosis (years) | AIRE genotype mutation | Nationality | Reference no. |
| (1) Male | Arthritis/3 y | Nail dystrophy, onychomycosis, pneumonia, dental caries, hypoparathyroidism | 4 | Homozygous c.769C > T, p.Arg257Ter | Turkish | Our case | (2) Female | Juvenile idiopathic arthritis (JIA)/2 y | Carpopedal spasms, hypoparathyroidism | 10 | Compound heterozygosity for c.232T > A and c.64_69del (p.V22_D23del) | Italian | [7] | (3) Female | Systemic JIA/2 y | Asthma-like dyspnea, hypoparathyroidism, adrenal failure, ovarian failure, chronic otitis media, pernicious anemia | 17 | c.892G > A (p.Glu298LYs) | Serbian | [12] | (4) Female | Juvenile idiopathic arthritis (JIA)/3 y | Tetralogy of Fallot, hypoparathyroidism, chronic mucocutaneous candidiasis, type 1 diabetes, adrenal insufficiency, growth hormone deficiency, ovarian failure, alopecia totalis, pernicious anemia | 26 | Declined testing for AIRE gene | Canadian | [13] | (5) Female | Systemic JIA at the age of one year with recurrent episodes of fever, rash, enteritis, hand swelling/1 y | Chronic mucocutaneous candidiasis, autoimmune hepatitis, nail mycosis, hypothyroidism, hypoparathyroidism, subclinical adrenal insufficiency, candida esophagitis, vitiligo | 5 | Homozygous mutation c.462G > A | German | [14] |
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