2022
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 types
2021
Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location
Boucher G, Paradis A, Chabot-Roy G, Coderre L, Hillhouse E, Bitton A, Rosiers C, Levings M, Schumm L, Lazarev M, Brant S, Duerr R, McGovern D, Silverberg M, Cho J, Lesage S, Rioux J, Bitton A, Boucher G, Charron G, Rosiers C, Forest A, Goyette P, Ivinson S, Joseph L, Kohen R, Lachaine J, Lesage S, Levings M, Rioux J, Thompson-Legault J, Vachon L, Veilleux S, White-Guay B, Bajpai M, Birch S, Bitton A, Borowski K, Botwin G, Boucher G, Brant S, Chen W, Cho J, Cordero R, Côté-Daigneault J, Daly M, Datta L, Duerr R, Filice M, Fleshner P, Gettler K, Giri M, Goyette P, Hao K, Haritunians T, Itan Y, Johnston E, Konnikova L, Landers C, Lazarev M, Li D, McGovern D, Mengesha E, Merad M, Miladinova V, Nayeri S, Proksell S, Raquel M, Rioux J, Rymaszewski K, Sabic K, Sands B, Schumm L, Schwartz M, Silverberg M, Simpson C, Stempak J, Stevens C, Targan S, Xavier R. Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location. Inflammatory Bowel Diseases 2021, 28: 9-20. PMID: 34106269, PMCID: PMC8730700, DOI: 10.1093/ibd/izab123.Peer-Reviewed Original ResearchConceptsCrohn's diseaseDisease locationCD patientsIL-6 beingColonic Crohn's diseaseInterleukin IL-6IL-12p70Chronic inflammationColorectal diseaseIL-6Inflammatory processHealthy controlsColorectal regionIntestinal microbiotaClinical observationsEpithelial barrierImmune systemPatientsSerum analytesEndothelial systemDiseaseSerum samplesGrowth factorMultiple cell typesDigestive tractSmall intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia
Konnikova L, Robinson TO, Owings AH, Shirley JF, Davis E, Tang Y, Wall S, Li J, Hasan MH, Gharaibeh RZ, Mendoza Alvarez LB, Ryan LK, Doty A, Chovanec JF, O'Connell MP, Grunes DE, Daley WP, Mayer E, Chang L, Liu J, Snapper SB, Milner JD, Glover SC, Lyons JJ. Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia. Journal Of Allergy And Clinical Immunology 2021, 148: 813-821.e7. PMID: 33865872, PMCID: PMC9017395, DOI: 10.1016/j.jaci.2021.04.004.Peer-Reviewed Original ResearchConceptsClass-switched memory B cellsMemory B cellsB cellsSyndrome cohortCell pyroptosisFunctional GI diseasesQuiescent Crohn's diseaseSmall intestinal immunopathologySubclinical intestinal inflammationFunctional gastrointestinal symptomsMast cell numbersTissue mast cellsExpression of CD203cBasal serum tryptaseElevated basal serum tryptaseIntestinal immunopathologyGastrointestinal symptomsImmunologic findingsIntestinal inflammationCrohn's diseaseHLA-DRSmall bowelGI diseaseIgG reactiveImmunologic characteristics
2020
Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn’s Disease
Mitsialis V, Wall S, Liu P, Ordovas-Montanes J, Parmet T, Vukovic M, Spencer D, Field M, McCourt C, Toothaker J, Bousvaros A, Center B, Ballal S, Bonilla S, Fawaz R, Fishman L, Flores A, Fox V, Grover A, Higuchi L, Huh S, Kahn S, Lee C, Mobassaleh M, Ouahed J, Pleskow R, Regan B, Rufo P, Sabharwal S, Silverstein J, Verhave M, Wolf A, Zimmerman L, Zitomersky N, Center B, Allegretti J, De Silva P, Friedman S, Hamilton M, Korzenik J, Makrauer F, Norton B, Winter R, Shalek A, Kean L, Horwitz B, Goldsmith J, Tseng G, Snapper S, Konnikova L. Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn’s Disease. Gastroenterology 2020, 159: 591-608.e10. PMID: 32428507, PMCID: PMC8166295, DOI: 10.1053/j.gastro.2020.04.074.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseasePeripheral blood mononuclear cellsActive Crohn's diseaseBlood mononuclear cellsColonic mucosa samplesActive ulcerative colitisPlasmacytoid dendritic cellsInnate lymphoid cellsUlcerative colitisCrohn's diseaseDendritic cellsImmune cell populationsRegulatory cellsMononuclear cellsT cellsMucosa samplesBlood samplesLymphoid cellsGroup 1 innate lymphoid cellsType 3 innate lymphoid cellsEffector memory T cellsCell populationsInactive ulcerative colitisInactive Crohn's diseaseMemory T cells317 CYTOF ANALYSIS OF HUMAN COLON AND BLOOD REVEALS DISTINCT IMMUNE SIGNATURES OF ULCERATIVE COLITIS AND CROHN'S DISEASE
Mitsialis V, Wall S, Liu P, Ordovas-Montanes J, Parmet T, Field M, McCourt C, Toothaker J, Goldsmith J, Kean L, Shalek A, Tseng G, Konnikova L, Snapper S. 317 CYTOF ANALYSIS OF HUMAN COLON AND BLOOD REVEALS DISTINCT IMMUNE SIGNATURES OF ULCERATIVE COLITIS AND CROHN'S DISEASE. Gastroenterology 2020, 158: s-57. DOI: 10.1016/s0016-5085(20)30824-6.Peer-Reviewed Original Research
2018
382 - High Dimensional Immune Phenotyping Using Mass Cytometry Reveals Unique IL1B Signatures in Peripheral Blood and GI Tissue of Ulcerative Colitis, Crohn's Disease, and IL10R Deficient Patients
Mitsialis V, Shouval D, Wall S, Snapper S, Konnikova L. 382 - High Dimensional Immune Phenotyping Using Mass Cytometry Reveals Unique IL1B Signatures in Peripheral Blood and GI Tissue of Ulcerative Colitis, Crohn's Disease, and IL10R Deficient Patients. Gastroenterology 2018, 154: s-90-s-91. DOI: 10.1016/s0016-5085(18)30750-9.Peer-Reviewed Original Research