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Paper Details

Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
14
2023
Allergy, Autoinflammatory Syndrome, DPM, Disabling pansclerotic morphea, JAK, Janus kinase, Primary skin fibroblast, Ruxolitinib, STAT, Single, cell-line, collagen, cytopenias, fibrosis, genetic defect, hyperinflammatory fibroblast phenotype, hypogammaglobulinemia, immunodysregulatory, interleukin-6, patients, peripheral-blood mononuclear cells, primary skin fibroblasts, ruxolitinib, signal transducer and activator of transcription 4, squamous-cell carcinoma, systemic inflammatory disorder, wound
Author NameAffiliation
Michele Nehrebeckythe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Roman Sasikthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Roman Sasikthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Kathleen M Fischthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Kathleen M Fischthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Massimo Gadinathe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Massimo Gadinathe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
David Dimmockthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Karin Jepsenthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Elaine F Remmersthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
William A Gahlthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
William A Gahlthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
John J O'Sheathe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
John J O'Sheathe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Joshua D Milnerthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
Daniel L Kastnerthe Center for Computational Biology and Bioinformatics, the Institute for Genomic Medicine (K.J.), University of California, Sanford Burnham Prebys Medical Discovery Institute (R.M., Ludwig Institute for Cancer Research (C.D.P.), Rady Children's Institute for Genomic Medicine (S.C., and Rady Children's Hospital Foundation (J.C., Rady Children's Hospital, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, University of Maryland, College Park (B.M.) - all in Maryland Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.) the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., and the University of Pittsburgh Scleroderma Center (A.S., Columbia University, New York (J.D.M.) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne
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