Table 1 Clinical and genetic characteristics of the series of 13 Serbian APECED patients including two novel case reports
From: Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Patient | Sex/age at referral (years) | Age of first symptom (years) | AIRE mutation | Major clinical manifestations related to APECEDe | Other clinical manifestationse | Reference |
|---|---|---|---|---|---|---|
a, d1. | M/3.5 | 3.5 | c.769C > T R257X (p.Arg257X) | Addison’s disease (3.5) Hypoparathyroidism (4) | Present report | |
a, d2. | F/4 | 4 | c.769C > T R257X (p.Arg257X) | Mucocutaneous candidiasis Hypoparathyroidism (4) Addison’s disease (11) | Ectodermal dystrophy Diffuse alopecia with madarosis Onychomycosis Hashimoto’s thyroiditis (13.5) POF (16) | Present report |
a, c, d3. | F/33 | 7 | c.769C > T R257X (p.Arg257X) | Hypoparathyroidism (7) Addison’s disease (14) Mucocutaneous candidiasis (16) | Pure red cell aplasia Hashimoto’s thyroiditis POF (30) Renal dysfunction Exocrine pancreas insufficiency (36) | [15] |
4.(younger sister of patient 3) | F | c.769C > T R257X (p.Arg257X) | Chronic mucocutaneous candidiasis Hypoparathyroidism Addison’s disease | Pernicious anemia Lichen ruber planus | [15] | |
a, d5. | c.769C > T R257X (p.Arg257X) | Mucocutaneous candidiasis Addison’s disease | Vitiligo Alopecia Ectodermal dystrophy Autoimmune hepatitis | [16] | ||
6. | F/21 | 7.5 | p.Glu298Lys/ p.Arg257X c.892G > A/ c.769C > T | Hypoparathyroidism (7.5) Addison’s disease (8) Mucocutaneous candidiasis (11) | Autoimmune bronchiolitis (3.5) Hypogonadism (12) Chronic Otitis media with effusion (16.5) Systemic Juvenile Rheumatoid Arthritis Pernicious anemia (17) | [17] |
a, b, c7. | M/12 | 2 | p. (=)/ p.Arg257X c.462A > T/ c.769C > T | Addison’s disease (11) | Ectodermal dystrophy (2) Malabsorption (2) Vitiligo (2) Alopecia (2.5) | [17] |
8. | F/8 | 1 | c.769C > T R257X (p.Arg257X) | Mucocutaneous candidiasis (1) Addison’s disease (4) Hypoparathyroidism (5) | Vitiligo (1) | [17] |
a, c, d9. | F/22 | 5 | c.769C > T R257X (p.Arg257X) | Mucocutaneous candidiasis (5) Addison’s disease (16) Hypoparathyroidism (15) | Chronic hepatitis (15) Pernicious anemia (16) | [17] |
a, b, c10. | M/20 | 6 | c.769C > T R257X (p. Arg257X) | Mucocutaneous candidiasis (6) Hypoparathyroidism (9) Addison’s disease (11) | Malabsorption (9) | [17] |
a, c11. | F/23 | 9 | c.769C > T R257X (p.Arg257X) | Hypoparathyroidism (9) Mucocutaneous candidiasis (10) Addison’s disease (10) | Alopecia (10) Hypogonadism (18) | [17] |
a, b, c12. | M/19 | 10 | c.769C > T R257X (p.Arg257X) | Mucocutaneous candidiasis (11) Hypoparathyroidism (13) Addison’s disease (14) | Pernicious anemia (10) Malabsorption (11) Alopecia (13) | [17] |
a, c13. | F/20 | 15 | not available | Adrenal insufficiency (15) Hypoparathyroidism (15) | Graves’ disease (15) Vitiligo (15) POF (15) Alopecia universalis (18) Vogt-Koyanagi-Harada syndrome (20) | [18] |