Table 1.
Clinical and genetic characteristics of the series of 13 Serbian APECED patients including two novel case reports
| 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] |
aAPECED patients for which sufficient information is retrospectively available to support a clinical diagnosis also based on the presence of Ferre/Lionakis criteria (i.e., presence of one symptom of the classic triad and one symptom of the adjunct triad of urticarial eruption, intestinal dysfunction and enamel hypoplasia). N = 10
bPatients for which sufficient information is retrospectively available and it was possible to confirm an earlier diagnosis based on Ferre/Lionakis criteria versus classic criteria. N = 3
cPatients for which sufficient information is retrospectively available to verify whether an earlier diagnosis based on Ferre/Lionakis criteria versus classic criteria was possible. N = 7
dIncompletely evaluable patients for an earlier diagnosis based on Ferre/Lionakis criteria versus classic criteria due to lack of information on the age of appearance of symptoms. N = 5
eAge of appearance of symptom (years)