Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-10-29

AUTHORS

Tenzin Gayden, Fernando E. Sepulveda, Dong-Anh Khuong-Quang, Jonathan Pratt, Elvis T. Valera, Alexandrine Garrigue, Susan Kelso, Frank Sicheri, Leonie G. Mikael, Nancy Hamel, Andrea Bajic, Rola Dali, Shriya Deshmukh, Dzana Dervovic, Daniel Schramek, Frédéric Guerin, Mikko Taipale, Hamid Nikbakht, Jacek Majewski, Despina Moshous, Janie Charlebois, Sharon Abish, Christine Bole-Feysot, Patrick Nitschke, Brigitte Bader-Meunier, David Mitchell, Catherine Thieblemont, Maxime Battistella, Simon Gravel, Van-Hung Nguyen, Rachel Conyers, Jean-Sebastien Diana, Chris McCormack, H. Miles Prince, Marianne Besnard, Stephane Blanche, Paul G. Ekert, Sylvie Fraitag, William D. Foulkes, Alain Fischer, Bénédicte Neven, David Michonneau, Geneviève de Saint Basile, Nada Jabado

ABSTRACT

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 survival1,2. 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. More... »

PAGES

1-8

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41588-018-0251-4

DOI

http://dx.doi.org/10.1038/s41588-018-0251-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107689542

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30374066


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