Table 1.
Main clinical features of APECED, specific related autoantibodies (when clearly associated with clinical manifestation) and usual period of life at onset of disease.
| Clinical manifestation | Autoantibody specificities | Usual age at onset |
|---|---|---|
| Classic triad | ||
| (i) Candidiasis | IL-17F, IL-22 [9] | Childhood |
| (ii) Hypoparathyroidism | NALP5, CaSR [13–15] | Childhood |
| (iii) Adrenal failure | P450c17, P450c21, P450scc [4, 37, 42, 83] | Childhood and adolescence |
| Other endocrine disorders | ||
| (i) Ovarian failure | P450scc and P450c17 [4] | Adolescence to adulthood |
| (ii) Testicular failure | TSGA10 [84] | Adolescence to adulthood |
| (iii) Diabetes mellitus | IA-2, GAD65 [4, 42, 43] | Adulthood |
| (iv) Hypothyroidism | TG, TPO [38, 43] | Childhood to adulthood |
| (v) Hypopituitarism | TDRD6 [41] | Adolescence to adulthood |
| Ectodermal features | ||
| (i) Alopecia | TH, hair follicles [4, 85] | Childhood to adulthood |
| (ii) Vitiligo | Melanocyte, SOX9, SOX10, AADC [39] | Childhood to adulthood |
| (iii) Keratopathy | Unknown | Childhood and adolescence |
| (iv) Enamel dysplasia | Unknown | Childhood |
| (v) Rash with fever | Unknown | Childhood |
| Gastrointestinal disorders | ||
| (i) Gastritis/pernicious anemia | H+/K+ ATPase, IF [26, 43] | Childhood to adulthood |
| (ii) Severe obstipation | TPH, HDC [4, 23, 40] | Childhood to adulthood |
| (iii) Chronic diarrhea |
TPH, HDC [4, 23, 40] |
Childhood to adulthood |
| (iv) Immune Hepatitis | CYP1A2, CYP2AC, AADC, TPH, HDC [3, 4, 19–21] | Childhood |
| Lung manifestations | KCNRG [27] | Childhood to adulthood |
| Tubulointerstitial nephritis | Unknown | Childhood |
| Asplenia | Unknown | Childhood to adulthood |
IL-17F: interleukin 17F, IL-22: interleukin 22, NALP5: NACHT leucine-rich-repeat protein 5, CaSR: calcium-sensing receptor, P450c17: Steroid 17-α-hydroxylase, P450c21: steroid 21-hydroxylase, P450scc: side-chain cleavage enzyme, TSGA10: testis-specific gene 10 protein, IA-2: islet antigen-2, GAD65: glutamic acid decarboxylase-65, Tg: thyroglobulin, TPO: thyroid peroxidase, TDRD6: tudor domain-containing protein 6, TH: tyrosine hydroxylase, AADC: aromatic l-amino acid decarboxylase, IF: intrinsic factor, TPH: tryptophan hydroxylase, HDC: histidine decarboxylase, CYP1A2: cytochrome P450 1A2, CYP2AC: cytochrome P450 2AC, KCNRG: potassium channel-regulating protein.