An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Table 1

APECED cases presenting with arthritis and diagnosed as juvenile idiopathic arthritis on admission and other clinical features and AIRE genotype in the literature.

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]