title: More than Meets the Eye: Monogenic Autoimmunity Strikes Again.
abstract: Autoimmunity is often familial, suggesting that inborn genetic variations might underlie its development. Curiously, autoimmunity has long been thought to be typically polygenic. Contrary to this prediction and consistent with growing discoveries of monogenic autoimmunity, Oftedal et al. discovered heterozygous dominant-negative AIRE mutations in patients with certain forms of autoimmunity.
authors.affiliation: Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: mark.anderson@ucsf.edu.
authors.forename: Mark S
authors.initials: MS
authors.lastname: Anderson
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France. Electronic address: jean-laurent.casanova@rockefeller.edu.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors