Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).
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| Title: | Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2). |
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| Authors: | 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., Ramba M; 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.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Debnath B; 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., Cuollo L; 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., Neehus AL; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Lee A; 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., Buta S; 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., Martin-Fernandez M; 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.; Rare Diseases Research Institute (IIER), Instituto de Salud Carlos III , Madrid, Spain., Rosain J; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Berteloot L; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Université Paris Cité, Department of Pediatric Radiology, Necker Hospital for Sick Children, AP-HP, Paris, France., Drabent P; Université Paris Cité, Department of Pathology, Necker Hospital for Sick Children, AP-HP, Paris, France., Le Voyer T; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France., Soudée C; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Peel J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Seeleuthner Y; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Puel A; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Zhang SY; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Ciancanelli MJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Arango-Franco CA; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France., Migaud M; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Frémond ML; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.; Pediatric Immuno-Hematology and Rheumatology Department, Hôpital Necker-Enfants Malades, AP-HP, Centre Université Paris Cité, Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), FHU INFLAMME, F-CRIN CRI-IMIDIATE network, Paris, France., Renaldo F; Department of Paediatric Neurology, Armand-Trousseau Hospital, AP-HP, Sorbonne University, Paris, France.; Centre de Référence Neurogénétique, Armand-Trousseau Hospital , Paris, France., Boespflug-Tanguy O; NeuroDiderot, Inserm U1141 , Paris, France.; Department of Pediatric Neurology, Paris Cité University, Paris, France., Dorboz I; Department Of Paediatric Neurology, Reference Center For Leukodystrophies And Rare Leukoencephalopathies (LEUKOFRANCE), Bicêtre Hospital, Paris, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France., Dubern B; Pediatric Nutrition and Gastroenterology Department, Reference Center for Rare Disorders, PRADORT (Syndrome de PRADer-Willi et autres Obésités Rares avec Troubles du comportement alimentaire), Trousseau Hospital, AP-HP, Sorbonne University, Paris, France., Fonteneau T; Service of Pediatric Pulmonology, RESPIRARE, Paris Cité University, Robert Debré Hospital, AP-HP , Paris, France., Parvaneh N; Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Molatefi R; Department of Pediatrics, Bo-Ali Children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran., Shahrooei M; Dr. Shahrooei Lab, Tehran, Iran., Duffy D; Translational Immunology Unit, Institut Pasteur, Universite Paris Cite, Paris, France., Bondet V; Translational Immunology Unit, Institut Pasteur, Universite Paris Cite, Paris, France., Rice GI; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Crow YJ; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Molina TJ; Université Paris Cité, Department of Pathology, Necker Hospital for Sick Children, AP-HP, Paris, France., Boddaert N; Université Paris Cité, Department of Pediatric Radiology, Necker Hospital for Sick Children, AP-HP, Paris, France., Casanova JL; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, New York, NY, USA.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France., Houdouin V; Service of Pediatric Pulmonology, RESPIRARE, Paris Cité University, Robert Debré Hospital, AP-HP , Paris, France., Melki I; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.; Department of General Pediatrics, Pediatric Rheumatology Unit, Armand Trousseau Hospital, AP-HP, Sorbonne Université, FHU INFLAMME, Paris, France., Hadchouel A; Department of Pediatric Pulmonology and Allergy, Necker Hospital for Sick Children, AP-HP, Paris, France.; Université Paris Cité, Necker Institute, INSERM U1151, Paris, France., Bustamante J; Université Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., 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. |
| Source: | The Journal of experimental medicine [J Exp Med] 2026 Aug 03; Vol. 223 (8). Date of Electronic Publication: 2026 Jul 16. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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