Table 1.
Characterization of the autoimmune polyendocrine syndrome type 1 (APS-1) patients.
| Patient number | Family number | Sex | Year of birth (YoB) | Age of onset | Classic triad | Other manifestations | Autoimmune regulator (AIRE) mutations | IFNω auto-antibodies | Other auto-antibodies |
|---|---|---|---|---|---|---|---|---|---|
| 1 | I | M | 1995 | 3 | CMC(3), HP(4), PAI(12) | Al(4), TIN(15), AT(16), E | C.967_979del13/c.769C>T | Positive | 21OH, IL-17, IL-22, TGM4 |
| 2 | I | M | 1992 | 2 | CMC(2), HP(4) | K(11), M(15), E | C.967_979del13/c.769C>T | Positive | AADC, GAD65, IL-17, IL-22, TGM4, TH |
| 3 | II | F | 1958 | 5 | CMC(5), HP(9), PAI(14) | G(18), AS(43), TIN(47), E(53) | C.967_979del13/large del | Positive | 21OH, 17OH, IL-22, MAGEB2, NALP5, SCC, TH |
| 4 | II | F | 2002 | 7 | PAI(7), HP(10), CMC | E, M | C.967_979del13/c.967_979del13 | Positive | 21OH, 17OH, AADC, GAD65, IL-22, MAGEB2, NALP5, SCC, TH, TPH1 |
| 5 | III | M | 1948 | 7 | CMC(7), HP(9), PAI(16) | V(17), Al(21), B12(63), E | C.769C>T/c.769C>T | Positive | 21OH, AADC, IL-17, IL-22 MAGEB2, SCC, SOX10, TGM4 |
| 6 | IV | F | 1960 | 9 | HP(9), CMC | Al(6), G(17), AT, E, N | C.22C>T/c.290T>C | Positive | NALP5, PCA |
| 7 | V | M | 1970 | 12 | PAI(12), CMC(42) | E | C.967_979del13/c.967_979del13 | Positive | 21OH, GAD65, IL-22, SCC |
| 8 | VI | F | 1974 | 23 | PAI(23), CMC(23) | E | C.879+1G>A/c.879+1G>A | Positive | 21OH, 17OH, NALP5 |
| 9 | VI | M | 1959 | 43 | HP(43), CMC | V(15), DM(32), E(49), AT(51) | C.879+1G>A/c.879+1G>A | Positive | 21OH, 17OH, AADC, GAD65, NALP5, TH, TPH1 |
| 10 | VII | M | 1964 | 14 | HP(14), CMC(22) | DM(23), K(25), N(25), V(41), Al(41), E | C.769C>T/c.1249dupC | Positive | AADC, GAD65, IL-22, PCA, PDILT, TGM4, TH, TPH1 |
| 11 | VII | M | 1963 | nk | CMC? | E | C.769C>T/c.1249dupC | Positive | AADC, IL-22, SOX10, TGM4 |
| 12 | VIII | F | 1988 | 3 | HP(3) | AT(24), E, M | C.967_979del13/c.967_979del13 | Positive | NALP5 |
| 13 | IX | F | 1987 | 2 | CMC(2), HP(15) | E(24), Al, E | C.1163_1164insA/c.1249_1950dupC | Positive | 21OH, AADC, IL-17, IL-22, MAGEB2, NALP5, SOX10 |
| 14 | X | F | 1971 | 5 | HP(5) | G(19), B12(35), M(39), E | C.934G>A/not found | Positive | NALP5, AADC, GAD, PCA |
| 15 | XI | F | 1976 | 4 | HP(4), C | E(14), AT(20), V(25) | C.967-979del13/c.967-979del13 | Positive | 21OH, 17OH, NALP5, TH, TPH, AADC, GAD, SCC, MAGEB2, SOX10, PDILT, IL-22 |
| 16 | XI | M | 1980 | 9 | HP(9), PAI(12), C(16) | E | C.967-979del13/c.967-979del13 | Positive | 21OH, SCC, TH, AADC, GAD, NALP5, TGM4, IL-17, IL-22 |
| 17 | XII | M | 1958 | Not known | PAI(55), HP, C | Al, AS, E | C.967-979del13/c.967-979del13 | Positive | GAD, TPH, MAGEB2, IL-17, IL-22 |
| 18 | XIII | F | 1982 | 5 | CMC(3) | V(15), PA(13), E, M | C.967-976del13/c.977C>T | Positive | AADC, GAD65, IL-22, PCA, PDILT, TPH1 |
Patient number, family, sex (M, male; F, female), YoB, clinical manifestations, AIRE mutations and auto-antibodies in APS-1 patients. The age of debut denotes the age at which the first APS-1 main component appeared. The age at diagnosis is written in parentheses.
21OH, 21-hydroxylase; 17OH, 17-α-hydroxylase; AADC, aromatic l-amino acid decarboxylase; Al, alopecia; AS, asplenism; AT, autoimmune thyroiditis; CMC, candidiasis; DM, diabetes mellitus; E, enamel hypoplasia; G, hypogonadism; GAD65, glutamic acid decarboxylase 65-kDA isoform; HP, hypoparathyroidism; IFNω, interferon-omega; IL-17, interleukin-17; IL-22, interleukin-22; K, keratoconjunctivitis; M, malabsorption; MAGEB2, melanoma antigen B2; N, nail hypotrophy; NALP5, NACHT leucine-rich-repeat protein 5; PA, pernicious anemia; PAI, primary adrenocortical insuffiency; PCA, parietal cell antigen; PDILT, protein disulfide isomerase-like testis expressed; SCC, side-cleavage enzyme; SOX10, sex-determining region Y-box 10; TGM4, transglutaminase 4; TIN, nephritis; TH, tyrosine hydroxylase; TPH, tryptophan hydroxylase; V, vitiligo.