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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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