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

Tenzin Gayden (1) , Fernando Sepulveda Garrido (2) , Dong-Anh Khuong-Quang (3, 4) , Jonathan Pratt (1) , Elvis Valera (5, 1) , Alexandrine Garrigue (6) , Susan Kelso (7) , Frank Sicheri (7) , Leonie Mikael (1) , Nancy Hamel (8) , Andrea Bajic (1) , Rola Dali (9) , Shriya Deshmukh (10) , Dzana Dervovic (11) , Daniel Schramek (11) , Frédéric Guerin , Mikko Taipale (7) , Hamid Nikbakht (1) , Jacek Majewski (12) , Despina Moshous (13) , Janie Charlebois (14) , Sharon Abish (14) , Christine Bole-Feysot (15) , Patrick Nitschke (2) , Brigitte Bader-Meunier (16) , David L. Mitchell (17) , Catherine Thiéblemont (18) , Maxime Battistella (19) , Simon Gravel (20) , Van-Hung Nguyen (20) , Rachel Conyers (4) , Jean-Sebastien Diana (21) , Chris Mccormack (22) , H. Miles Prince (23) , Marianne Besnard (24) , Stéphane Blanche (25) , Paul Ekert (26) , Sylvie Fraitag (27) , William Foulkes (1) , Alain Fischer (13, 28) , Bénédicte Neven (13) , David Michonneau (27) , Geneviève de Saint Basile (6) , Nada Jabado (29)

1 Department of Human Genetics [Montréal]
2 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
3 Children’s Cancer Center, The Royal Children’s Hospital and Murdoch Children’s Research Institute, Parkville, Victoria, Australia
4 University of Melbourne
5 Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil
6 Developpement Normal et Pathologique du Système Immunitaire
7 Department of Molecular Genetics [Toronto]
8 Cancer Research Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada
9 C3G - Canadian Centre for Computational Genomics
10 Department of Medicine - Division of Experimental Medicine [Montréal, QC, Canada]
11 Lunenfeld-Tanenbaum Research Institute [Toronto, Canada]
12 McGill University and Genome Quebec Innovation Centre
13 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
14 Pediatric Hematology Oncology, Montreal Children's Hosp., Montreal, Canada
15 ADEN - Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau
16 Service Immunologie et Hématologie
17 SSL - Space Sciences Laboratory [Berkeley]
18 Gvh et Gvl : Physiopathologie Chez l'Homme et Chez l'Animal, Incidence et Role Therapeutique
19 Service d'Anatomie pathologique [CHU Saint-Louis]
20 McGill University = Université McGill [Montréal, Canada]
21 Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP]
22 Department of Dermatology, St. Vincent’s Hospital, Fitzroy, Victoria, Australia
23 Department of Oncology [Melbourne, Australie]
24 Department of Neonatology, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia
25 Service d'immuno-hématologie pédiatrique [CHU Necker]
26 epartment of Pediatrics, University of Melbourne, Parkville, Victoria, Australia
27 Laboratoire d'anatomie pathologique [CHU Necker]
28 Collège de France - Chaire Médecine expérimentale (A. Fischer)
29 Department of Human Genetics , Department of Experimental Medicine

Domaines: Sciences du Vivant [q-bio]; Immunologie; Génétique

Tenzin Gayden, Fernando Sepulveda Garrido, Dong-Anh Khuong-Quang, Jonathan Pratt, Elvis Valera, et al.. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nature Genetics, 2018, 50 (12), pp.1650-1657. ⟨10.1038/s41588-018-0251-4⟩. ⟨hal-02365179⟩