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 precisionEsophagitisScoresTherapy