Disease characteristics, autoantibodies, and AIRE mutations of APECED patients of this study
| Patient no. . | Sex . | Age, y . | Autoantibodies . | Manifestations . | AIRE mutations . |
|---|---|---|---|---|---|
| A1 | M | 58 | 21OH, SCC, AADC, GAD | C, HP, A, V, Al, | c.769C>T/c.769C>T |
| A2 | M | 47 | AADC, GAD, TPH | HP, D, V | c.879+1G>A/c.879+1G>A |
| A3 | F | 54 | 21OH, GAD | C, A, HP, G, AT, Al, E, D | c.769C>T /c.1336T>G |
| A4 | F | 25 | 21OH, 17OH | A | c.769C>T / c.1242_1243insA |
| A5 | F | 20 | 21OH, SCC, 17OH | C, A, V, N, G | c.769C>T/c.1242_1243insA |
| A6 | M | 21 | 21OH, SCC, 17OH, AADC | C, HP, A, K | c.769C>T/c.769C>T |
| A7 | M | 17 | negative | C, HP, M, AT | c.1064-1068dupCCCGG/ c.1064-1068dupCCCGG |
| A8 | F | 56 | 21OH, 17OH | C, HP, A | R257X/967-979del13 |
| Patient no. . | Sex . | Age, y . | Autoantibodies . | Manifestations . | AIRE mutations . |
|---|---|---|---|---|---|
| A1 | M | 58 | 21OH, SCC, AADC, GAD | C, HP, A, V, Al, | c.769C>T/c.769C>T |
| A2 | M | 47 | AADC, GAD, TPH | HP, D, V | c.879+1G>A/c.879+1G>A |
| A3 | F | 54 | 21OH, GAD | C, A, HP, G, AT, Al, E, D | c.769C>T /c.1336T>G |
| A4 | F | 25 | 21OH, 17OH | A | c.769C>T / c.1242_1243insA |
| A5 | F | 20 | 21OH, SCC, 17OH | C, A, V, N, G | c.769C>T/c.1242_1243insA |
| A6 | M | 21 | 21OH, SCC, 17OH, AADC | C, HP, A, K | c.769C>T/c.769C>T |
| A7 | M | 17 | negative | C, HP, M, AT | c.1064-1068dupCCCGG/ c.1064-1068dupCCCGG |
| A8 | F | 56 | 21OH, 17OH | C, HP, A | R257X/967-979del13 |
21OH indicates 21-hydroxylase; SCC, side-chain cleavage enzyme; AADC, aromatic L-amino acid decarboxylase; GAD, glutamic acid decarboxylase; TPH, tryptophan hydroxylase; 17OH, 17α-hydroxylase; A, adrenal insufficiency; HP, hypoparathyroidism; C, mucocutaneous candidiasis; G, primary gonadal insufficiency; V, vitiligo; Al, alopecia; AT, autoimmune thyroid disease; M, malabsorption; N, nail pitting; E, dental enamel hypoplasia; K, keratopathy; and D, type I diabetes.