2020
In utero human intestine harbors unique metabolomic features including bacterial metabolites
Li Y, Toothaker JM, Ben-Simon S, Ozeri L, Schweitzer R, McCourt BT, McCourt CC, Werner L, Snapper SB, Shouval DS, Khatib S, Koren O, Agnihorti S, Tseng G, Konnikova L. In utero human intestine harbors unique metabolomic features including bacterial metabolites. JCI Insight 2020, 5: e138751. PMID: 33001863, PMCID: PMC7710283, DOI: 10.1172/jci.insight.138751.Peer-Reviewed Original ResearchConceptsFetal immune systemIntestinal barrier integrityMicrobial-associated metabolitesHost-derived metabolitesBacterial DNAIntestinal immunityMaternal microbiomeIntestinal functionImmune regulationGastrointestinal tractIntestinal microbiomeFetal intestineBarrier integrityImmune systemHuman intestinal samplesIntestinal samplesIntestinal profileMicrobial encountersMetabolomic featuresBacterial metabolitesUteroNutrient metabolismMetabolitesRecent studiesMicrobiomeSingle-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 cells
2019
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Shuldiner A, Zohar Y, Paperna T, Snapper S, Shouval D, Baris Feldman H. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. Journal Of Clinical Immunology 2019, 39: 430-439. PMID: 31079270, DOI: 10.1007/s10875-019-00631-6.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAmino Acid SequenceChildChild, PreschoolColitisDNA Mutational AnalysisEnteritisEosinophiliaExome SequencingGastritisGenetic Association StudiesGenetic Predisposition to DiseaseHomozygoteHumansImmunohistochemistryImmunophenotypingMaleMicrofilament ProteinsModels, MolecularMutationPhenotypeStructure-Activity RelationshipConceptsWhole-exome sequencingImmunological workupWestern blotRecurrent infectionsGastrointestinal diseasesCyTOF analysisRegulatory T cell frequencyEosinophilic gastrointestinal diseasesEosinophilic gastrointestinal disordersT cell frequenciesUlcerative colitis patientsAdaptive immune cellsEvidence of recurrentSigns of immunodeficiencyT cell proliferationT-cell studiesColitis patientsChronic diarrheaImmunodeficiency syndromeTreg generationGastrointestinal disordersImmunological phenotypeImmune populationsImmune cellsSevere infections
2017
An algorithm for the classification of mRNA patterns in eosinophilic esophagitis: Integration of machine learning
Sallis BF, Erkert L, Moñino-Romero S, Acar U, Wu R, Konnikova L, Lexmond WS, Hamilton MJ, Dunn WA, Szepfalusi Z, Vanderhoof JA, Snapper SB, Turner JR, Goldsmith JD, Spencer LA, Nurko S, Fiebiger E. An algorithm for the classification of mRNA patterns in eosinophilic esophagitis: Integration of machine learning. Journal Of Allergy And Clinical Immunology 2017, 141: 1354-1364.e9. PMID: 29273402, PMCID: PMC6425755, DOI: 10.1016/j.jaci.2017.11.027.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlgorithmsChildChild, PreschoolDecision Support Systems, ClinicalDecision Support TechniquesEosinophilic EsophagitisFactor Analysis, StatisticalFemaleGenetic MarkersHumansImmunohistochemistryInfantMachine LearningMaleRegistriesRNA, MessengerSensitivity and SpecificitySingle-Blind MethodConceptsAllergic statusEosinophilic esophagitisPatient's allergic statusGastroesophageal reflux diseaseBiopsies of patientsEpsilon germ-line transcriptsEoE patientsReflux diseaseAllergic inflammationIgE productionSerum IgEEquivocal patientsPatient subpopulationsDiagnostic evaluationIndividualized therapyEquivocal casesPrimary analysisPatient careGerm-line transcriptsEoEPatientsDiagnostic precisionEsophagitisScoresTherapyEnhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD
Shouval DS, Konnikova L, Griffith AE, Wall SM, Biswas A, Werner L, Nunberg M, Kammermeier J, Goettel JA, Anand R, Chen H, Weiss B, Li J, Loizides A, Yerushalmi B, Yanagi T, Beier R, Conklin LS, Ebens CL, Santos FGMS, Sherlock M, Goldsmith JD, Kotlarz D, Glover SC, Shah N, Bousvaros A, Uhlig HH, Muise AM, Klein C, Snapper SB. Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD. Inflammatory Bowel Diseases 2017, 23: 1950-1961. PMID: 29023267, DOI: 10.1097/mib.0000000000001270.Peer-Reviewed Original ResearchConceptsT cell proliferationDeficient patientsTh17 cellsReceptor deficiencySevere infantile-onset inflammatory bowel diseaseInfantile-onset inflammatory bowel diseaseAdaptive immune cell functionsCD4 T cell functionCD4 T cell proliferationCD4 T cell subsetsHematopoietic stem cell transplantationPeripheral blood mononuclear cellsNaive T cell proliferationSuppression of TregsGeneration of TregsInflammatory bowel diseaseRegulatory T cellsStem cell transplantationT cell subsetsBlood mononuclear cellsImmune cell defectsAnti-inflammatory macrophagesT cell functionImmune cell functionReal-time polymerase chain reaction