换一批
换一批Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
作者：
Tenzin,Gayden [1]
;
Fernando E,Sepulveda [2]
;
Dong-Anh,Khuong-Quang [3]
;
Jonathan,Pratt [4]
;
Elvis T,Valera [1]
;
Alexandrine,Garrigue [1]
;
Susan,Kelso [5]
;
Frank,Sicheri [2]
;
Leonie G,Mikael [6]
;
Nancy,Hamel [7]
;
Andrea,Bajic [6]
;
Rola,Dali [7]
;
Shriya,Deshmukh [1]
;
Dzana,Dervovic [8]
;
Daniel,Schramek [1]
;
Frédéric,Guerin [9]
;
Mikko,Taipale [10]
;
Hamid,Nikbakht [6]
;
Jacek,Majewski [6]
;
Despina,Moshous [7]
;
Janie,Charlebois [2]
;
Sharon,Abish [7]
;
Christine,Bole-Feysot [1]
;
Patrick,Nitschke [9]
;
Brigitte,Bader-Meunier [1]
;
David,Mitchell [11]
;
Catherine,Thieblemont [12]
;
Maxime,Battistella [13]
;
Simon,Gravel [13]
;
Van-Hung,Nguyen [14]
;
Rachel,Conyers [15]
;
Jean-Sebastien,Diana [12]
;
Chris,McCormack [13]
;
H Miles,Prince [16]
;
Marianne,Besnard [17]
;
Stephane,Blanche [17]
;
Paul G,Ekert [18]
;
Sylvie,Fraitag [11]
;
William D,Foulkes [19]
;
Alain,Fischer [3]
;
Bénédicte,Neven [4]
;
David,Michonneau [12]
;
Geneviève,de Saint Basile [20]
;
Nada,Jabado [21]
作者单位：
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
[1]
Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM U1163, Institut Imagine, and Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
[2]
Children's Cancer Center, The Royal Children's Hospital and Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[3]
Department of Pediatrics, University of Melbourne, Parkville, Victoria, Australia.
[4]
Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
[5]
Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
[6]
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
[7]
Cancer Research Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.
[8]
Canadian Centre for Computational Genomics, Montreal, Quebec, Canada.
[9]
Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada.
[10]
McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.
[11]
Department of Pediatric Immunology and Hematology, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
[12]
Division of Hematology and Oncology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
[13]
Plateforme de Génomique, Institut Imagine, Paris, France.
[14]
Plateforme de Bioinformatique, Université Paris Descartes, Université Sorbonne Paris Cité, Paris, France.
[15]
Hematology and Oncology Unit, Saint Louis Hospital, Paris, France.
[16]
Paris Diderot University, Université Sorbonne Paris Cité, Paris, France.
[17]
Cytology and Pathology Laboratory, Saint Louis Hospital, Paris, France.
[18]
Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
[19]
Department of Surgical Oncology, Peter MacCallum Cancer Institute, University of Melbourne, Melbourne, Victoria, Australia.
[20]
Department of Dermatology, St. Vincent's Hospital, Fitzroy, Victoria, Australia.
[21]
Epworth Healthcare, Melbourne, Victoria, Australia.
[22]
Department of Medical Oncology, Sir Peter MacCallum Cancer Centre and University of Melbourne, Melbourne, Victoria, Australia.
[23]
Department of Neonatology, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia.
[24]
Department of Anatomy and Cytology/Pathology, Centre Hospitalier Universitaire Paris, Hôpital Necker-Enfants Malades, Paris, France.
[25]
Collège de France, Paris, France.
[26]
INSERM U1163, Institut Imagine and Université Paris Descartes -Sorbonne Paris Cité, Paris, France.
[27]
Hematology and Transplantation Unit, Saint Louis Hospital, Paris, France.
[28]
Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM U1163, Institut Imagine, and Université Paris Descartes-Sorbonne Paris Cité, Paris, France. genevieve.de-saint-basile@inserm.fr.
[29]
Centre d'Etudes des Déficits Immunitaires, Centre Hospitalier Universitaire Paris, Hôpital Necker-Enfants Malades, Paris, France. genevieve.de-saint-basile@inserm.fr.
[30]
Department of Human Genetics, McGill University, Montreal, Quebec, Canada. nada.jabado@mcgill.ca.
[31]
Department of Pediatrics, McGill University, Montreal, Quebec, Canada. nada.jabado@mcgill.ca.
[32]
Research Institute, McGill University Health Centre, Montreal, Quebec, Canada. nada.jabado@mcgill.ca.
[33]
主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);老年人, 80以上(Aged, 80 and over);儿童(Child);诊断, 鉴别(Diagnosis, Differential);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);生殖细胞系突变(Germ-Line Mutation);人类(Humans);婴儿(Infant);淋巴组织细胞增多症, 嗜血细胞性(Lymphohistiocytosis, Hemophagocytic);淋巴瘤, T细胞(Lymphoma, T-Cell);男(雄)性(Male);中年人(Middle Aged);脂膜炎(Panniculitis);系谱(Pedigree);青年人(Young Adult)
DOI
10.1038/s41588-018-0251-4
PMID
30374066
发布时间
2022-12-07
- 浏览30
Nature genetics
Nature genetics
1650-1657页
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