Novel monogenic diseases causing human autoimmunity

Isabelle Melki; Yanick J Crow

doi:10.1016/j.coi.2015.07.008

Novel monogenic diseases causing human autoimmunity

Curr Opin Immunol. 2015 Dec:37:1-5. doi: 10.1016/j.coi.2015.07.008. Epub 2015 Aug 8.

Authors

Isabelle Melki¹, Yanick J Crow²

Affiliations

¹ Pédiatrie générale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, France; Hémato-Immunologie pédiatrique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France.
² INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, UK. Electronic address: yanickcrow@mac.com.

PMID: 26262888
DOI: 10.1016/j.coi.2015.07.008

Abstract

Fuelled by the on-going sequencing revolution, the last two years have seen a number of exciting discoveries relating to monogenic disorders predisposing to autoimmunity that provide new insights into the function of the human immune system. Here we discuss a selection of these diseases due to mutations in PRKCD, CTLA4, STAT3, IFIH1, TMEM173 and COPA.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Autoimmune Diseases / genetics*
Autoimmunity / genetics
Genetic Association Studies
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Immune System / physiology*
Mutation / genetics