Early-onset autoimmunity associated with SOCS1 haploinsufficiency

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-func...

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Vydáno v:Nat Commun
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7578789/
https://ncbi.nlm.nih.gov/pubmed/33087723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-18925-4
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