Additional file 1. Table 1. Prevalence of Different Components in Chinese Patients with APS1. Abbreviation: APS1: Autoimmune Polyendocrine Syndrome Type 1. Table 2. Mutations of the AIRE Gene in Chinese Patients with APS1. Abbreviation: APS1: Autoimmune Polyendocrine Syndrome Type 1. GenBank accession number of AIRE: NM_000383. HSR: Homogeneously Staining Region; CARD: Caspase Recruitment Domain; NLS: Nuclear Localization Signal; PHD: Plant Homeodomain; Het: Heterozygous; Hom: Homozygous; “-” indicates that data are not available. CARD/HSR, amino acids 1–105; SAND: amino acids 181–280; two plant homeodomain (PHD) fingers type zinc fingers (amino acids 296–343 and 434–475); four LXXLL domains that are found on coactivators of nuclear receptors (amino acids 7–11, 63–67, 414–418, and 516–520) and a nuclear localization signal (amino acids 100–189). Figure 1. Clinical Spectrum and Genotype in Patients with APS1 in China. Abbreviation: APS1: autoimmune polyendocrine syndrome type 1; HP: hypoparathyroidism; CMC: chronic mucocutaneous candidiasis; AD: Addison’s disease; HT: hypothyroidism; HG: hypergonadotropic hypogonadism; T1DM: type 1 diabetes mellitus; ED: ectodermal dysplasia, including enamel dysplasia and nail dystrophy; A: alopecia; K: keratitis; RP: retinitis pigmentosa; IM: intestinal malabsorption; HO: hematopathy; RTA: renal tubular acidosis; JE: Japanese encephalitis; PA: pernicious anemia; AIH: autoimmune hepatitis; AS: ankylosing spondylitis; SA: asplenia. #: Case 4 and Case 5, Case 16 and Case 17, and Case 19 and Case 20 were siblings, respectively. *: homozygous mutations. The parents of cases 7 and 12 were consanguineous marriages. Cases 1 to 13 were from our center, and cases 14 to 25 were from the reported literature. GenBank accession number of AIRE: NM_000383.