The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.

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作者： Ori,Scott ^[1] ; Shagana,Visuvanathan ^[2] ; Emily,Reddy ^[3] ; Deeqa,Mahamed ^[2] ; Bin,Gu ^[4] ; Chaim M,Roifman ^[4] ; Ronald D,Cohn ^[5] ; Cynthia J,Guidos ^[6] ; Evgueni A,Ivakine ^[1]

作者单位： Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada. ^[1] Program for Genetics & Genome Biology, Hospital for Sick Children Research Institute, Toronto, ON, Canada. ^[2] Institute of Medical Science, University of Toronto, Toronto, ON, Canada. ^[3] Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada. ^[4] Department of Obstetrics, Gynecology and Reproductive Biology, Michigan State University, East Lansing, MI, United States. ^[5] Institute for Quantitative Health Science and Engineering, Michigan State University, East Lansing, MI, United States. ^[6] The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada. ^[7] Division of Clinical & Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada. ^[8] Department of Immunology, University of Toronto, Toronto, ON, Canada. ^[9] Department of Physiology, University of Toronto, Toronto, ON, Canada. ^[10]

关键词 STAT1 Specific pathogen free (SPF)T helper autoimmunity chronic activation gain of function (GOF)immune dysregulation mouse model