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SP0029 Auto-Immune and Auto-Inflammatory Monogenic Diseases of the Immune System. What can be Learned from their Studies?
  1. F. Alain1,2,3
  1. 1Imagine Institute, Imagine Institute
  2. 2Université Paris Descartes, Université
  3. 3Hopital Necker, Inserm U768, Paris, France

Abstract

In the recent years, multiple monogenic diseases have been described that cause auto-inflammatory and/or auto-immune diseases in association or not with vulnerability to microorganisms i.e, classic primary immunodeficiencies. I would herein review some of the genetic defects affecting checkpoints of reactivity to self, notably of the FAS apoptotic pathway that is providing a model to discuss the role of somatic mutations in the generation of auto-immune disorders. Early onset Inflammatory Bowel Disease (IBD) can also exhibit mendelian inheritance. XIAP, a molecule downstream of the NOD2 signaling pathway, when deficient can trigger severe IBD in humans and, is, together with chronic granulomatous and deficiencies in the IL-10 pathway, the strongest genetic risk factor for human IBD

Disclosure of Interest None Declared

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