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Table 2 Clinical manifestations in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

From: Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants

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