RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features
Sultan M, Adawi M, Kol N, McCourt B, Adawi I, Baram L, Tal N, Werner L, Lev A, Snapper S, Barel O, Konnikova L, Somech R, Shouval D. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features. Frontiers In Immunology 2022, 13: 1041315. PMID: 36466854, PMCID: PMC9716469, DOI: 10.3389/fimmu.2022.1041315.Peer-Reviewed Original ResearchConceptsInfantile-onset inflammatory bowel diseaseReceptor-interacting serine/threonine-protein kinase 1Serine/threonine-protein kinase 1Peripheral blood mononuclear cellsRole of RIPK1Immune cellsMultiple cell typesRIPK1 deficiencyKinase domainCrohn's diseasePatient 1Patient 2Perianal fistulasT cellsGenetic analysisProtein modelingKinase 1B cellsGenetic studiesAllogeneic hematopoietic stem cell transplantationPatients' peripheral blood mononuclear cellsImportant regulatorHematopoietic stem cell transplantationPathogenic genetic variantsCell typesDOP64 Pathogenic RIPK1 Mutations Cause Infantile-onset IBD with Inflammatory and Fistulizing Features
Sultan M, Millman P, McCourt B, Kol N, Lev A, Matar M, Barel O, Shamir R, Wilschanski M, Konnikova L, Somech R, Shouval D. DOP64 Pathogenic RIPK1 Mutations Cause Infantile-onset IBD with Inflammatory and Fistulizing Features. Journal Of Crohn's And Colitis 2022, 16: i109-i109. DOI: 10.1093/ecco-jcc/jjab232.103.Peer-Reviewed Original ResearchInfantile-onset inflammatory bowel diseaseInflammatory bowel diseasePeripheral blood mononuclear cellsImmune cellsMass cytometry timePerianal fistulasCytometry timeSevere infantile-onset inflammatory bowel diseaseB cellsAllogeneic hematopoietic stem cell transplantationPatients' peripheral blood mononuclear cellsSevere inflammatory bowel diseaseHematopoietic stem cell transplantationIL-1 receptor antagonistMultiple perianal fistulasHyper-inflammatory responseIntestinal immune responsePatient's immune cellsStem cell transplantationBlood mononuclear cellsPeripheral immune dysregulationIL-6 productionRole of RIPK1Cytokine secretion analysisSanger sequencing