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

OBJECTIVE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000–200,000 worldwide and 1/6500–...

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Detalles Bibliográficos
Autores principales: Setoodeh, Aria, Panjeh-Shahi, Samareh, Bahmani, Fariba, Vand-Rajabpour, Fatemeh, Jalilian, Nazanin, Sayarifard, Fatemeh, Abbasi, Farzaneh, Sayarifard, Azadeh, Rostami, Parastoo, Parvaneh, Nima, Akhavan-Niaki, Haleh, Ahmadifard, Mohamadreza, Tabrizi, Mina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734050/
https://www.ncbi.nlm.nih.gov/pubmed/34991662
http://dx.doi.org/10.1186/s13023-021-02170-z

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