Fig. 1

Clinical spectrum and genotype in patient with APS1. APS1, autoimmune polyendocrine syndrome type 1; HP, hypoparathyroidism; CMC, chronic mucocutaneous candidiasis; AD, Addison’s disease; ED, ectodermal dysplasia, including enamel dysplasia and nail dystrophy; A, alopecia; HT, hypothyroidism; HG, hypergonadotropic hypogonadism; K, keratitis; RP, retinitis pigmentosa; IM, intestinal malabsorption; HO, hematopathy; RTA, renal tubular acidosis; AIH, autoimmune hepatitis; AS, ankylosing spondylitis; AP, asplenia; M, male; F, female. ^#Case 4 and case 5 were siblings, respectively. *Homozygous mutations. The parents of cases 7 and 12 were consanguineous marriages. The onset age (year) of different components known were shown in the pane. GenBank accession number of AIRE: NM_000383