Table 2 Clinical manifestations in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)
Families | Patients | Sex | Age | Age of onset | Consanguinity | Mucosal candidiasis | Hypoparathyroidism | Addison disease | Autoimmune thyroiditis | Insulin dependent-diabetes mellitus | Keratitis | Nail dystrophy | Additional findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IR-APECED-1 | Patient 1 | F | 15 | CMC = 1 Y; Hypo = 4 Y | + First cousin | + | + | + | − | − | + | + | |
Patient 2 | F | 12 | CMC = 2 Y; Hypo = 4 Y | + | + | + | − | − | + | Vitiligo | |||
IR-APECED-2 | Patient-3 | M | 12 | CMC = 13 M; Hypo = 4.5 Y; AD = 4.5 Y | + First cousin | + | + | + | + | + | − | ||
Patient 4 | F | 10 | CMC = 14 M | + | + | + | − | − | − | ||||
IR-APECED-3 | Patient 5 | M | 15 | CMC = 1 Y; HYPO = 4 Y | + First cousin | + | + | + | + | − | − | Chronic malnutrition, Autoimmune hepatitis | |
IR-APECED-4 | Patient 6 | F | 26 | CMC = 1 Y; HYPO = 7 Y; AD = 7 Y | + First cousin | + | + | + | − | − | − | + | |
IR-APECED-5 | Patient 7 | M | 20 | CMC = 1 Y; HYPO = 3 Y; AD = 5 Y | − | + | + | − | − | − | + | + | |
IR-APECED-6 | Patient 8 | F | 13 | < 1 Y | + | + | + | + | − | − | − | − | |
IR-APECED-7 | Patient 9 | M | 10 | CMC = 1 Y; AD = 8 Y | + First cousin | + | + | + | + | + | − | + | Enamel hypoplasia |
Patient 10 | F | 2 | CMC = 10 M; AD = 6 M | + | − | + | − | − | − | + | Enamel hypoplasia | ||
IR-APECED-8 | Patient 11 | F | 14 | 5 Y | − | + | + | + | − | − | − | − | |
7 F/4 M | Total | 11/11 | 10/11 | 10/11 | 3/11 | 2/11 | 3/11 | 5/11 |