Table 1.
Characteristics of the APS-1 patients. The age at diagnosis for each disease component is written in parentheses. The age of onset denotes the age at which the first APS-1 main component appeared.
| Pat. no. | Family no. | Sex | Age | Age of onset | Classic triad | Other manifestations | AIRE-mutations | Autoantibodies | Unstimulated saliva flow rate, saliva pH | Fungal load* | Other oral manifesta-tions |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | I | M | 26 | 4 | HP(4), CMC(9), AI(11) | E(11) | c.967_979del13/ c.967_979del13 |
21OH, IL17, IL22, INF-ω, MAGEB2, PDILT, SCC, TGM4, TH, TPH1 |
Pathological (<0.1 ml/min) pH 5.0 |
Positive. Cheilitis angularis. |
Caries. |
| 2 | I | F | 36 | 4 | HP(4), CMC | E(14), AT(20), V(25) | c.967_979del13/ c.967_979del13 |
21OH, 17OH, AADC, GAD65, IL22, INF-ω, MAGEB2, NALP5, PDILT, SCC, SOX10, TH, TPH1 | Normal (>0.1 ml/min) pH nd. |
Negative. | – |
| 3 | II | F | 10 | 7 | PAI(7), HP(10), CMC | E, M | c.967_979del13/ c.967_979del13 |
21OH, 17OH, AADC, GAD65, IL22, INF-ω, MAGEB2, NALP5, SCC, TH, TPH1 | Normal (>0.1 ml/min) pH 7.0 |
Negative. | – |
| 4 | III | M | 64 | 7 | CMC(7), HP(9), PAI(16) | V(17), Al(21), B12(63), E | c.769C>T/ c.769C>T |
21OH, AADC, IL17, IL22, INF-ω, MAGEB2, SCC, SOX10, TGM4 | Normal (>0.1 ml/min) pH 5.5 |
Positive. Cheilitis angularis. |
Gingivitis. Caries. |
| 5 | IV | F | 24 | 3 | HP(3) | AT(24), E, M | c.967_979del13/ c.967_979del13 |
INF-ω, NALP5 | Normal (>0.1 ml/min) pH 7.0 |
Negative. | Gingivitis. |
| 6 | V | F | 25 | 2 | CMC(2), HP(15) | E(24), Al, E | c.1163_1164insA/ c.1249_1950dupC |
21OH, AADC, IL17, IL22, INF-ω, MAGEB2, NALP5, SOX10 | Normal (>0.1 ml/min) pH 6.0 |
Positive. Cheilitis angularis. |
Mucosal lesions. |
| 7 | VI | F | 41 | 5 | HP(5) | G(19), B12(35), M(39), E | c.934G>A (dominant) mutation) | AADC, GAD65, INF-ω, NALP5, PCA | Pathological (<0.1 ml/min) pH nd. |
Negative. | Caries. |
21OH, 21-hydroxylase; 17OH, 17-α-hydroxylase; AADC, aromatic l-amino acid decarboxylase; Al, alopecia; AT, autoimmune thyroiditis; B12, vitamin-B12 deficiency; CMC, candidiasis; E, enamel hypoplasia; G, hypogonadism; GAD65, glutamic acid decarboxylase 65-kDA isoform; HP, hypoparathyroidism; IL17, interleukin-17; IL22, interleukin-22; INF-ω, interferon-omega; M, malabsorption; MAGEB2, melanoma antigen B2; NALP5, NACHT leucine-rich-repeat protein 5; PAI, primary adrenocortical insufficiency; PCA, parietal cell autoantibodies; PDILT, protein disulphide isomerase-like testis expressed; SCC, side-chain-cleavage enzyme; SOX10, sex determining region Y-box 10; TGM4, transglutaminase 4; TPH1, tryptophan hydroxylase 1; TH, tyrosine hydroxylase; V, vitiligo; YoB, year of birth, nd; not done.
*Standard methods were used for culturing Candida albicans.