Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran
-
Mahnaz Seifi-Alan
and
Farzaneh Abbasi
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some populations including Iranian Jews. Here we report three cases of APECED from two independent Iranian Muslim families. Addison’s disease, hypoparathyroidismand mucocutaneous candidiasis were shared clinical manifestations in all patients. Mutational analyses have demonstrated a novel homozygous splice site mutation (c.1095+2T>A) in intron 9 and a previously identified homozygous nonsense mutation (c.415C>T) in exon 3 of patients respectively. Future studies are needed to evaluate the frequency of these variants in Iranian APECED patients which would facilitate genetic counseling as well as prenatal diagnosis.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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- Frontmatter
- Original Articles
- Decreased undercarboxylated osteocalcin in children with type 2 diabetes mellitus
- Evaluation of left and right ventricular functions using conventional and tissue Doppler echocardiography in children with type 1 diabetes mellitus
- Prevalence of psychosocial morbidity in children with type 1 diabetes mellitus: a survey from Northern India
- Increased GLP-1 response to oral glucose in pre-pubertal obese children
- Prevalence of idiopathic intracranial hypertension and associated factors in obese children and adolescents
- Idiopathic postprandial hyperinsulinaemic hypoglycaemia
- Feeding, eating and behavioral disturbances in Prader-Willi syndrome and non-syndromal obesity
- Interpretation of thyroid glands in a group of healthy children: real-time ultrasonography elastography study
- Ghrelin, insulin-like growth factor I and adipocytokines concentrations in born small for gestational age prepubertal children after the catch-up growth
- Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children
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- GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature
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- Microarray analysis of slipped capital femoral epiphysis growth plates
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- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran
- Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl
- A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β
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