In one paragraphArticle in The Journal of experimental medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0cells of the map it votes in
0citing papers in PubMed
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What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
41 authors.
Conor GruberDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-9102-8134 Meredith Ramba *Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-4770-9389 Bineeta Debnath *Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0009-0005-7185-6468 Lorenzo Cuollo *Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-1871-3378 Angelica LeeDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0009-0008-4939-940X Sofija ButaDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0001-7662-3851 Marta Martin-FernandezDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-4671-6349 Philippe DrabentUniversité Paris Cité, Department of Pathology, Necker Hospital for Sick Children, AP-HP, Paris, France.ORCID 0000-0003-0273-0050 Jessica PeelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-1894-8882 Michael J CiancanelliSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-4623-852X Marie-Louise FrémondUniversité Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.ORCID 0000-0002-2798-9141 Florence RenaldoDepartment of Paediatric Neurology, Armand-Trousseau Hospital, AP-HP, Sorbonne University, Paris, France.ORCID 0000-0001-5246-629X Imen DorbozDepartment Of Paediatric Neurology, Reference Center For Leukodystrophies And Rare Leukoencephalopathies (LEUKOFRANCE), Bicêtre Hospital, Paris, France.ORCID 0000-0003-3299-1497 Beatrice DubernPediatric 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.ORCID 0000-0002-0065-5344 Tristan FonteneauService of Pediatric Pulmonology, RESPIRARE, Paris Cité University, Robert Debré Hospital, AP-HP , Paris, France.
Nima ParvanehDepartment of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-3397-9716 Rasol MolatefiDepartment of Pediatrics, Bo-Ali Children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran.ORCID 0000-0002-3614-5039 Vincent BondetTranslational Immunology Unit, Institut Pasteur, Universite Paris Cite, Paris, France.ORCID 0000-0002-6534-0984 Gillian I RiceDivision of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0002-4223-0571 Yanick J CrowUniversité Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.ORCID 0000-0001-7211-7564 Thierry Jo MolinaUniversité Paris Cité, Department of Pathology, Necker Hospital for Sick Children, AP-HP, Paris, France.ORCID 0000-0002-3929-9754 Nathalie BoddaertUniversité Paris Cité, Department of Pediatric Radiology, Necker Hospital for Sick Children, AP-HP, Paris, France.ORCID 0000-0003-0991-7774 Veronique HoudouinService of Pediatric Pulmonology, RESPIRARE, Paris Cité University, Robert Debré Hospital, AP-HP , Paris, France.ORCID 0000-0002-6062-1293 Isabelle MelkiUniversité Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163 , Paris, France.ORCID 0000-0002-8057-333X Alice HadchouelDepartment of Pediatric Pulmonology and Allergy, Necker Hospital for Sick Children, AP-HP, Paris, France.ORCID 0000-0001-7451-9890 Dusan BogunovicDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-9277-3232 Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MSomatic variants as drivers of genetic errors of immunityP01AI186771 · NIAID · WASHINGTON UNIVERSITY · PI Dusan Bogunovic, Megan Anne Cooper · 2025 to 2026
$7.5MHuman ISG15 and USP18 Deficiencies Underlying Type I InterferonopathiesR01AI127372 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Dusan Bogunovic · 2017 to 2026
$4.7MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MNew York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)R24AI167802 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Dusan Bogunovic, Joshua D. Milner · 2023 to 2026
$3.3MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MInborn Errors of Immunity Leading to Autoinflammatory SyndromesR01AI148963 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOGUNOVIC, DUSAN · 2020 to 2024
$2.5MBettencourt-Schueller FoundationEuropean Molecular Biology Organization ALTF 209-2024European Research Council 786142-E-T1IFNsFondation pour la Recherche Médicale FDT202204015102French National Research Agency ANR-10-IAHU-01French National Research Agency ANR-10-LABX-62-IBEIDFrench National Research Agency ANR-22-CE92-0008Imagine InstituteINSERMLaboratoire d'Excellence Integrative - Biology of Emerging Infectious DiseasesNational Center for Advancement of Translational Sciences UL1TR001866National Institute of Allergy and Infectious Diseases 1P01AI186771National Institute of Allergy and Infectious Diseases R01AI127372National Institute of Allergy and Infectious Diseases R01AI148963National Institute of Allergy and Infectious Diseases R24AI167802National Institute of Allergy and Infectious Diseases R37AI095983NCATS NIH HHS UL1 TR001866NIAID NIH HHS P01 AI186771NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127372NIAID NIH HHS R01 AI148963NIAID NIH HHS R24 AI167802NIAID NIH HHS R37 AI095983Paris Cité UniversityRockefeller UniversitySt. Giles FoundationUK Medical Research Council MC_UU_00035/11
6 · The paper itselfAbstract
Mutations that enhance type I interferon (IFN-I) activity cause monogenic autoinflammatory disorders termed type I interferonopathies. Along with the typical neurologic and rheumatologic manifestations, severe pulmonary disease is increasingly recognized yet poorly understood. We studied three siblings presenting with early-onset, life-threatening pulmonary alveolar proteinosis (PAP) and autoinflammatory stigmata. Genetic analysis uncovered a novel homozygous variant (R223Q) in STAT2, a key mediator of IFN-I signaling, which also facilitates feedback inhibition via USP18. R223Q STAT2 preserved signal transduction and viral control in vitro. However, cells homozygous for the R223Q variant failed to terminate IFN-I responses, owing to impaired localization of USP18. Unlike in classical forms of PAP, GM-CSF signaling remained intact. Instead, persistent IFN-I signaling antagonized monocyte migration toward chemokines essential for lung trafficking. Informed by these findings, the youngest sibling received JAK inhibitor and anti-IFN-I receptor therapy with marked clinical improvement. Collectively, type I interferonopathy by mutation of STAT2 (TIMS2) compromises monocyte chemotaxis and underlies a novel mechanism of PAP.
Indexed as
Interferon Type IMutationPulmonary Alveolar ProteinosisSTAT2 Transcription FactorFemaleHumansMalePedigreeSiblingsSignal TransductionInterferon Type ISTAT2 protein, humanSTAT2 Transcription Factor
Identifiers
PMID42461263
PMCPMC7619351
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