- Main
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
- 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
- et al.
Published Web Location
https://doi.org/10.1038/s41467-020-18925-4Abstract
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 manifestations. The intracellular protein SOCS1 is known to downregulate cytokine signaling by inhibiting the JAK-STAT pathway. Accordingly, patient-derived lymphocytes exhibit increased STAT activation in vitro in response to interferon-
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
Main Content
Enter the password to open this PDF file:
-
-
-
-
-
-
-
-
-
-
-
-
-
-