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