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Gayden, Tenzin; Sepulveda, Fernando E; Khuong-Quang, Dong-Anh; Pratt, Jonathan; Valera, Elvis T; Garrigue, Alexandrine; Kelso, Susan; Sicheri, Frank; Mikael, Leonie G; Hamel, Nancy; Bajic, Andrea; Dali, Rola; Deshmukh, Shriya; Dervovic, Dzana; Schramek, Daniel; Guerin, Frédéric; Taipale, Mikko; Nikbakht, Hamid; Majewski, Jacek; Moshous, Despina; Charlebois, Janie; Abish, Sharon; Bole-Feysot, Christine; Nitschke, Patrick; Bader-Meunier, Brigitte; Mitchell, David; Thieblemont, Catherine; Battistella, Maxime; Gravel, Simon; Nguyen, Van-Hung; Conyers, Rachel; Diana, Jean-Sebastien; McCormack, Chris; Prince, H Miles; Besnard, Marianne; Blanche, Stephane; Ekert, Paul G; Fraitag, Sylvie; Foulkes, William D; Fischer, Alain; Neven, Bénédicte; Michonneau, David; de Saint Basile, Geneviève; Jabado, Nada
Nature genetics, 12/2018, Letnik: 50, Številka: 12Journal Article
Subcutaneous panniculitis-like T cell lymphoma (SPTCL), a non-Hodgkin lymphoma, can be associated with hemophagocytic lymphohistiocytosis (HLH), a life-threatening immune activation that adversely affects survival . T cell immunoglobulin mucin 3 (TIM-3) is a modulator of immune responses expressed on subgroups of T and innate immune cells. We identify in ~60% of SPTCL cases germline, loss-of-function, missense variants altering highly conserved residues of TIM-3, c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met), each with specific geographic distribution. The variant encoding p.Tyr82Cys TIM-3 occurs on a potential founder chromosome in patients with East Asian and Polynesian ancestry, while p.Ile97Met TIM-3 occurs in patients with European ancestry. Both variants induce protein misfolding and abrogate TIM-3's plasma membrane expression, leading to persistent immune activation and increased production of inflammatory cytokines, including tumor necrosis factor-α and interleukin-1β, promoting HLH and SPTCL. Our findings highlight HLH-SPTCL as a new genetic entity and identify mutations causing TIM-3 alterations as a causative genetic defect in SPTCL. While HLH-SPTCL patients with mutant TIM-3 benefit from immunomodulation, therapeutic repression of the TIM-3 checkpoint may have adverse consequences.
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