article_metadata: Marsha Pellegrino Emanuele Bellacchio Rudina Dhamo Federica Frasca Corrado Betterle Alessandra Fierabracci
article_metadata: 10.3389/fimmu.2018.01835
article_metadata: Front Immunol
article_metadata: 2018 Aug 13;9:1835.
article_metadata: aire gene apeced epidemiology genotype/phenotype correlation mutation functional analysis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30150985/
article_metadata: Genotype Mutation / genetics Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics
article_metadata: Genotype Mutation / genetics Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Review Adolescent Autoantibodies / blood Consanguinity Female Homozygote Humans Hyponatremia Iodide Peroxidase / immunology Pakistan Pedigree Polyendocrinopathies, Autoimmune / diagnosis Polymorphism, Single Nucleotide APECED protein Autoantibodies Transcription Factors Iodide Peroxidase
article_metadata: PMC6099424
article_metadata: 30150985
article_metadata: A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature
article_metadata: 2018