Marsha Pellegrino Emanuele Bellacchio Rudina Dhamo Federica Frasca Corrado Betterle Alessandra Fierabracci
10.3389/fimmu.2018.01835
Front Immunol
2018 Aug 13;9:1835.
aire gene apeced epidemiology genotype/phenotype correlation mutation functional analysis
CC BY
https://pubmed.ncbi.nlm.nih.gov/30150985/
Genotype Mutation / genetics Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics
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
PMC6099424
30150985
A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature
2018