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Neven, Bénédicte; Mamessier, Emilie; Bruneau, Julie; Kaltenbach, Sophie; Kotlarz, Daniel; Suarez, Felipe; Masliah-Planchon, Julien; Billot, Katy; Canioni, Danielle; Frange, Pierre; Radford-Weiss, Isabelle; Asnafi, Vahid; Murugan, Dhaarini; Bole, Christine; Nitschke, Patrick; Goulet, Olivier; Casanova, Jean-Laurent; Blanche, Stéphane; Picard, Capucine; Hermine, Olivier; Rieux-Laucat, Frederic; Brousse, Nicole; Davi, Frederic; Baud, Véronique; Klein, Christoph; Nadel, Bertrand; Ruemmele, Frank; Fischer, Alain
Blood, 11/2013, Volume: 122, Issue: 23Journal Article
Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus–negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor κB pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis. •Human inherited IL-10 receptor deficiency is associated with a very high risk of non-EBV–related diffuse large B-cell lymphoma.•IL-10 signaling may be involved in the immune control of germinal center B-cell lymphoma.
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