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