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STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.

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Title: STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.
Authors: Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Molatefi R; Cancer Immunology and Immunotherapy Research Center, Ardabil University of Medical Sciences, Ardabil, Iran.; Department of Pediatrics, Bo-Ali Children's Hospital, Ardabil University of Medical Sciences, Ardabil, Iran., Gruber C; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Division of Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Biglari S; Farin Genetics Laboratory, Tehran, Iran., Moradi L; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran., Seeleuthner Y; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Ailal F; Laboratory of Clinical Immunology, Infection and Autoimmunity, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.; Department of Pediatric Infectious Diseases and Clinical Immunology, Children's Hospital, CHU Averroes, Casablanca, Morocco., Bousfiha AA; Laboratory of Clinical Immunology, Infection and Autoimmunity, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.; Department of Pediatric Infectious Diseases and Clinical Immunology, Children's Hospital, CHU Averroes, Casablanca, Morocco., Pak N; Radiology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Soudée C; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Casanova JL; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, Assistance Publique-Hôpitaux de Paris, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, New York, NY, USA., Rosain J; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France., Bogunovic D; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY, USA., Fazlollahi MR; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran., Shahrooei M; Dr. Shahrooei Lab, Tehran, Iran., Bustamante J; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
Source: Journal of human immunity [J Hum Immun] 2026 May 27; Vol. 2 (4), pp. e20260001. Date of Electronic Publication: 2026 May 27 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE
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  Data: STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.
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  Data: <searchLink fieldCode="AU" term="%22Parvaneh+N%22">Parvaneh N</searchLink>; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Molatefi+R%22">Molatefi R</searchLink>; Cancer Immunology and Immunotherapy Research Center, Ardabil University of Medical Sciences, Ardabil, Iran.; Department of Pediatrics, Bo-Ali Children's Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Gruber+C%22">Gruber C</searchLink>; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Division of Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Biglari+S%22">Biglari S</searchLink>; Farin Genetics Laboratory, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Moradi+L%22">Moradi L</searchLink>; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Seeleuthner+Y%22">Seeleuthner Y</searchLink>; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ailal+F%22">Ailal F</searchLink>; Laboratory of Clinical Immunology, Infection and Autoimmunity, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.; Department of Pediatric Infectious Diseases and Clinical Immunology, Children's Hospital, CHU Averroes, Casablanca, Morocco.<br /><searchLink fieldCode="AU" term="%22Bousfiha+AA%22">Bousfiha AA</searchLink>; Laboratory of Clinical Immunology, Infection and Autoimmunity, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.; Department of Pediatric Infectious Diseases and Clinical Immunology, Children's Hospital, CHU Averroes, Casablanca, Morocco.<br /><searchLink fieldCode="AU" term="%22Pak+N%22">Pak N</searchLink>; Radiology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Soudée+C%22">Soudée C</searchLink>; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, Assistance Publique-Hôpitaux de Paris, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bogunovic+D%22">Bogunovic D</searchLink>; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Fazlollahi+MR%22">Fazlollahi MR</searchLink>; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Shahrooei+M%22">Shahrooei M</searchLink>; Dr. Shahrooei Lab, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; Imagine Institute, Paris Cité University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%229919054337406676%22">Journal of human immunity</searchLink> [J Hum Immun] 2026 May 27; Vol. 2 (4), pp. e20260001. <i>Date of Electronic Publication: </i>2026 May 27 (<i>Print Publication: </i>2026).
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