Article
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Nature communications - 21 Oct 2020
Hadjadj Jérôme, Castro Carla Noemi, Tusseau Maud, Stolzenberg Marie-Claude, Mazerolles Fabienne, Aladjidi Nathalie, Armstrong Martin, Ashrafian Houman, Cutcutache Ioana, Ebetsberger-Dachs Georg, Elliott Katherine S, Durieu Isabelle, Fabien Nicole, Fusaro Mathieu, Heeg Maximilian, Schmitt Yohan, Bras Marc, Knight Julian C, Lega Jean-Christophe, Lesca Gaetan, Mathieu Anne-Laure, Moreews Marion, Moreira Baptiste, Nosbaum Audrey, Page Matthew, Picard Cécile, Ronan Leahy T, Rouvet Isabelle, Ryan Ethel, Sanlaville Damien, Schwarz Klaus, Skelton Andrew, Viallard Jean-Francois, Viel Sebastien, Villard Marine, Callebaut Isabelle, Picard Capucine, Walzer Thierry, Ehl Stephan, Fischer Alain, Neven Bénédicte, Belot Alexandre, Rieux-Laucat Frédéric
Abstract excerpt
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune...
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