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
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