Novel monogenic diseases causing human autoimmunity.
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.
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.
Isabelle
I
Melki
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.
Yanick J
YJ
Crow
D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics*; D015551:Autoimmunity / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007107:Immune System / Q000502:physiology*; D009154:Mutation / Q000235:genetics