Conference Proceedings

Germline TIM-3 Mutations Characterize Sub-Cutaneous Panniculitis T-Cell Lymphomas with Hemophagocytic Lymphohistiocytic Syndrome

Dong-Anh Khuong-Quang, Tenzin Gayden, Fernando Sepulveda, Jonathan Pratt, Elvis Valera, Alexandrine Garrigue, Susan Kelso, Frank Sicheri, Leonie Mikael, Nancy Hamel, Andrea Bajic, Rola Dali, Dzana Dervovic, Daniel Schramek, Frederic Guerin, Mikko Taipale, Hamid Nikbakht, Jacek Majewski, Despina Moshous, Janie Charlebois Show all

BLOOD | AMER SOC HEMATOLOGY | Published : 2018


Abstract Introduction Sub-cutaneous panniculitis T-cell lymphomas (SPTCL), a rare non-Hodgkin lymphoma, can be associated with hemophagocytic lymphohistiocytosis (HLH), a life-threatening activation of the immune system which adversely impacts survival. T-cell immunoglobulin mucin 3 (TIM-3) is a modulator of immune responses expressed on subgroups of T- and innate immune cells. In this work we describe the first germline variants associated with SPTCL, which are in the TIM-3 gene. Methods We sequenced 27 SPTCL cases to identify gene variants. We performed TIM-3 functional analysis on immune cells from patients and HEK293 cells engin..

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