More than Meets the Eye: Monogenic Autoimmunity Strikes Again

Mark S Anderson; Jean-Laurent Casanova

doi:10.1016/j.immuni.2015.06.004

More than Meets the Eye: Monogenic Autoimmunity Strikes Again

Immunity. 2015 Jun 16;42(6):986-8. doi: 10.1016/j.immuni.2015.06.004.

Authors

Mark S Anderson¹, Jean-Laurent Casanova²

Affiliations

¹ Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: mark.anderson@ucsf.edu.
² 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.

PMID: 26084018
DOI: 10.1016/j.immuni.2015.06.004

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.

Publication types

Comment

MeSH terms

DNA Mutational Analysis / methods*
Female
Genes, Dominant / genetics*
Humans
Male
Mutation / genetics*
Polyendocrinopathies, Autoimmune / genetics*
Transcription Factors / genetics*

Substances

Transcription Factors