2020
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. Journal Of Clinical Immunology 2020, 40: 1010-1019. PMID: 32710398, DOI: 10.1007/s10875-020-00829-z.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseasePeripheral blood mononuclear cellsUlcerative colitisInfantile-onset inflammatory bowel diseasePatients' peripheral blood mononuclear cellsInnate immune subsetsPneumocystis jiroveci pneumoniaUnique clinical manifestationsBlood mononuclear cellsNaïve T cellsMass cytometry analysisHoyeraal-Hreidarsson syndromeAshkenazi Jewish patientsWhole-exome sequencingDifferent monogenic disordersImmunologic alterationsJiroveci pneumoniaBowel diseaseImmune subsetsImmunological alterationsImmune landscapeCarriage rateClinical manifestationsMononuclear cellsControl subjects
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
2018
DOP010 Activating PIK3CD mutations cause severe intestinal lymphonodular hyperplasia and an IBD-like phenotype
Farachi S, Werner L, Konnikova L, Rea F, Vardi I, Romeo E, Barel O, De Angelis P, Dall’Oglio L, Rechavi G, Snapper S, Somech R, Weiss B, Cancrini C, Shouval D. DOP010 Activating PIK3CD mutations cause severe intestinal lymphonodular hyperplasia and an IBD-like phenotype. Journal Of Crohn's And Colitis 2018, 12: s36-s37. DOI: 10.1093/ecco-jcc/jjx180.047.Peer-Reviewed Original ResearchIBD-like phenotypeCD8 T cellsWhole-exome sequencingLymphonodular hyperplasiaPIK3CD mutationsT cellsIntestinal diffuse large B-cell lymphomaDiffuse large B-cell lymphomaExome sequencingLarge B-cell lymphomaIntestinal immune cellsEarly-onset IBDRecurrent sinopulmonary infectionsT-cell lymphopeniaB-cell lymphomaPI3K inhibitorsFirst yearNovel PI3K inhibitorsDifferent monogenic disordersGastrointestinal manifestationsMemory CD4Chronic diarrheaImmunological alterationsIntestinal inflammationIgM levels