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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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.
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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
32 authors.
S Farshid Moussavi-HaramiDivision of Pediatric Critical Care Medicine, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3348-8092 Matt S ZinterDivision of Pediatric Critical Care Medicine, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3351-3278 Marialetizia MottaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0001-6592-910X Luca PannoneDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.ORCID 0000-0001-7027-8196 Paolo CalligariDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, Rome, Italy.ORCID 0000-0001-7614-8931 Luca MigniniMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0009-0005-7384-6212 Anne SlavotinekDivision of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0009-0004-4069-7778 Pierre-Marie MartinInstitute of Human Genetics, University of California, San Francisco , San Francisco, CA, USA.ORCID 0009-0007-7199-8647 Henry SanchezDepartment of Pathology and Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0009-0004-4227-738X Lauren SanchezDivision of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0001-9062-8181 Iman RagabHematology Oncology Unit, Ain Shams University, Children's Hospital, Pediatric Hospital, Cairo, Egypt.ORCID 0000-0002-5848-8294 Clare L AbramDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-9204-2640 Martin BrolyRare and Autoinflammatory Genetic Diseases Unit, Laboratory of Molecular Genetics and Rare Diseases R+3, CEREMAIA - Site unique de biologie, CHU Montpellier, Montpellier, France.ORCID 0009-0005-4685-7063 Guilaine BoursierDepartment of Molecular Genetics and Cytogenomics, Reference Center for Autoinflammatory Diseases and Amyloidosis (CeRéMAIA), Institute for Regenerative Medicine and Biotherapy, INSERM U1183, CHU Montpellier, University Montpellier, Montpellier, France.ORCID 0000-0002-2903-3135 Nima ParvanehDivision of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-3397-9716 Amy P HsuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-6841-2122 Steven M HollandNational Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda, MD, USA.ORCID 0000-0003-3207-5464 Gianfranco BocchinfusoDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, Rome, Italy.ORCID 0000-0002-5556-7691 Lorenzo StellaDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, Rome, Italy.
Simone MartinelliDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.ORCID 0000-0002-5843-419X Bruno ReversadeLaboratory of Human Genetics & Therapeutics, Biological and Environmental Sciences and Engineering Division (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.ORCID 0000-0002-4070-7997 Marco Tartaglia *Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0001-7736-9672 Clifford A Lowell *Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-0467-7073 Mark R Looney *Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-0241-9190 Alice Y Chan *Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-1466-7044 Funding
Immunobiology of the normal and injured lungR35HL161241 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MARK ROBERTS LOONEY · 2022 to 2026
$4.2MMechanisms and pathogenicity of SARS-CoV-2-induced neutrophil extracellular trapsR01AI160167 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LOONEY, MARK ROBERTS · 2021 to 2025
$3.1MResearch Training in Pediatric Critical Care MedicineT32HD049303 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI JEFFREY R FINEMAN · 2006 to 2026
$3.1MThe Child Health Research Career Development Program at UCSFK12HD105250 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Raphael Hirsch · 2021 to 2026
$2.5MRole of PARP-1 in Mediating Inflammatory Gene TranscriptionR01AI064706 · NIAID · GEORGETOWN UNIVERSITY · PI JUNG, MITCHELL C · 2006 to 2010
$1.5MUnraveling the Molecular Function of Mosaic, a gene mediating immune dysregulationK08AI137301 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHAN, ALICE · 2019 to 2023
$1.0MModulation of Acute Lung Injury by the Phosphatase SHP1K08HL177269 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Sayyed Farshid Moussavi-Harami · 2026 to 2026
$175kAIRC Foundation IG19171AIRC Foundation IG24940AIRC Foundation IG28768CINECA HP10B3TIMHCINECA HP10B6MADUCINECA HP10BL5G4CItalian Ministry of Education, University and Research PNRR CN_00000013Italian Ministry of Education, University and Research PNRR PE_00000019Italian Ministry of Education, University and Research PRIN 20157WW5EH_007Italian Ministry of Health RF-2021-12374963Jeffrey Modell FoundationNational Institute of Allergy and Infectious Disease Z01 AI 0064706NHLBI NIH HHS K08 HL177269NHLBI NIH HHS R35 HL161241NIAID NIH HHS K08 AI137301NIAID NIH HHS R01 AI064706NIAID NIH HHS R01 AI160167NICHD NIH HHS K12 HD105250NICHD NIH HHS T32 HD049303NIH HHS K08AI137301NIH HHS K08HL177269NIH HHS K12HD105250NIH HHS R01AI160167NIH HHS R35HL161241NIH HHS T32HD049303Parker B. Francis
6 · The paper itselfAbstract
Severe inflammatory lung disease, including acute respiratory distress syndrome (ARDS), is life-threatening with diverse causes and few targeted therapies. Inborn errors of immunity (IEIs) underlie a subset of cases. We describe a novel IEI caused by biallelic loss-of-function variants in PTPN6, encoding the immunoregulatory phosphatase SHP1. Seven children from five families developed early-onset anemia and severe inflammatory lung disease, at times presenting as ARDS. The causative variants were shown to destabilize SHP1 and abolish its phosphatase activity. These findings expand the genetic landscape of inflammatory lung disease and suggest SHP1 activation as a potential therapeutic strategy for immune-mediated pulmonary pathology.
Indexed as
Anemia, HemolyticLoss of Function MutationProtein Tyrosine Phosphatase, Non-Receptor Type 6Respiratory Distress SyndromeAllelesChildChild, PreschoolFemaleHumansMalePedigreeProtein Tyrosine Phosphatase, Non-Receptor Type 6PTPN6 protein, human
Identifiers
PMID42841903
PMCPMC13644687
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