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

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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Bibliographic Details
Main Authors: Marsha Pellegrino, Emanuele Bellacchio, Rudina Dhamo, Federica Frasca, Corrado Betterle, Alessandra Fierabracci
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-08-01
Series:Frontiers in Immunology
Subjects:
APECED
AIRE gene
genotype/phenotype correlation
mutation functional analysis
epidemiology
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.01835/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.01835/full

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