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A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Autoimmune-poly-endocrinopathy-candidiasis–ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the diagnosis of APECED are the presence of two of the following disorders: chronic mucocutaneous candidi...

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Detalles Bibliográficos
Autores principales:	Pellegrino, Marsha, Bellacchio, Emanuele, Dhamo, Rudina, Frasca, Federica, Betterle, Corrado, Fierabracci, Alessandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099424/ https://www.ncbi.nlm.nih.gov/pubmed/30150985 http://dx.doi.org/10.3389/fimmu.2018.01835

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