Article 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. Cited by 6 papers.
0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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 registry
The 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.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
38 authors.
Clémence David *Université Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0001-6455-3251
Tifenn Wauquier *Université Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0009-0000-0487-8361
Alix de BecdelièvreLaboratory of Genetics, Henri Mondor University Hospital, AP-HP, University Paris Est Creteil, INSERM, Institut Mondor de Recherche Biomédicale , Creteil, France.ORCID 0000-0002-0488-3475
Maud TusseauDepartment of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID 0009-0001-2699-3827
Cécile MassonBioinformatics Core Facility, Université Paris Cité-Structure Fédérative de Recherche Necker, INSERM, US24/CNRS UMS3633 , Paris, France.ORCID 0000-0001-7870-7821
Luis SeabraUniversité Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0002-4678-3026
Caroline KannengiesserService de Génétique, Hôpital Bichat, AP-HP, Université Paris Cité , Paris, France.ORCID 0000-0003-2155-9383
Hayssam Al ArabNational Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), Paediatric Nephrology, Rheumatology, Dermatology Unit, Hospital of Mother and Child, Hospices Civils of Lyon , Bron, France.ORCID 0009-0005-8234-5065
Ibrahima BaService de Génétique, Hôpital Bichat, AP-HP, Université Paris Cité , Paris, France.ORCID 0000-0001-5338-3883
Mary BrennanPaediatric and Adolescent Rheumatology, Royal Hospital for Children and Young People , Edinburgh, UK.ORCID 0000-0002-1775-9959
Alexandre BelotNational Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), Paediatric Nephrology, Rheumatology, Dermatology Unit, Hospital of Mother and Child, Hospices Civils of Lyon , Bron, France.ORCID 0000-0003-4902-5332
Nadia NathanPaediatric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, INSERM UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University and AP-HP, Paris, France.ORCID 0000-0001-5149-7975
Hélène MaillardDepartment of Internal Medicine and Clinical Immunology, Referral Centre for Rare Systemic Autoimmune Diseases in the North of France, Northwest, Mediterranean and Guadeloupe (CeRAINOM), CHU de Lille, Lille, France.ORCID 0000-0001-5460-8589
Héloïse ReumauxPaediatric Rheumatology Unit, University of Lille, Jeanne de Flandre Hospital , Lille, France.ORCID 0000-0001-5682-4760
Jérémie SellamDepartment of Rheumatology, Saint-Antoine Hospital, AP-HP, Centre de Recherche Saint-Antoine (CRSA) INSERM UMRS_938, Sorbonne Université, Paris, France.ORCID 0000-0002-1814-6003
Jacques CadranelDepartment of Pneumology and Thoracic Oncology, Tenon Hospital, AP-HP Sorbonne Université, Paris, France.ORCID 0000-0003-2446-2923
Yves HatchuelDepartment of General Paediatrics, Competence Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE) Antilles-Guyane, EpiCliV Research Unit, University of the French West Indies, Martinique University Hospital, Fort-de France, France.ORCID 0000-0002-3317-2883
Laurence WeissPediatric Pulmonology, Strasbourg University Hospital , Strasbourg, France.ORCID 0000-0003-4064-6650
Sébastien de AlmeidaDepartment of Internal Medicine, CHU de Toulouse, Toulouse, France.ORCID 0000-0003-2729-3635
Cinthia RamesPaediatric Pneumology and Allergology Unit, CHU of Amiens , Amiens, France.ORCID 0009-0002-6962-0796
Marie WislezService d'Oncologie Thoracique, Hôpital Cochin, AP-HP, INSERM U1138, Université Paris Cité, Paris, France.ORCID 0000-0001-7518-7859
Clémentine VigierPaediatric Pneumology Unit, CHU of Rennes , Rennes, France.
Géraldine LabouretPaediatric Pulmonology Department, University Hospital for Children, Toulouse, France.ORCID 0009-0001-9825-9074
Claire KastnerGenetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.ORCID 0000-0003-1069-2680
François ProvotNephrology Department, Université de Lille, CHU Lille, Lille, France.ORCID 0000-0003-0218-9153
Julien TarabeuxGenetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.ORCID 0009-0006-9220-9339
Elise SchaeferService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.ORCID 0000-0003-1004-6814
Darragh DuffyTranslational Immunology Unit, Institut Pasteur, Université Paris Cité , Paris, France.ORCID 0000-0002-8875-2308
Vincent BondetTranslational Immunology Unit, Institut Pasteur, Université Paris Cité , Paris, France.ORCID 0000-0002-6534-0984
Paul BastardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children , Paris, France.ORCID 0000-0002-5926-8437
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children , Paris, France.ORCID 0000-0002-7782-4169
Gillian I RiceDivision of Evolution Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0002-4223-0571
Brigitte Bader-MeunierPaediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP, Université Paris Cité and RAISE , Paris, France.ORCID 0000-0001-8476-8196
Yanick J CrowUniversité Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0001-7211-7564
Alice LepelleyUniversité Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0001-8656-7291
Marie-Louise FrémondUniversité Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0002-2798-9141
Funding
European Research Council 786142-E-T1IFNsFondation Bettencourt-SchuellerFondation Pour la Recherche Médicale FDM202106013329Francophone Society for Pediatric Rheumatology and Inflammatory Diseases Rolando CimazFrench Foundation for Medical Research EA20170638020Imagine Institute ANR-10-IAHU-01National Research Agency ANR-10-IAHU-01UK Medical Research Council MC_UU_00035/11
6 · The paper itself
Abstract
COPA syndrome is a rare monogenic autoinflammatory disease due to heterozygous mutations in COPA, encoding the coatomer subunit α. COPA syndrome demonstrates phenotypic overlap with STING-associated vasculopathy with onset in infancy (SAVI), the latter due to gain-of-function mutations in STING1. Indeed, STING activation is a key driver of the pathogenesis of COPA syndrome, and a recent report suggested that the presence of the common HAQ STING allele confers complete protection against the development of clinical disease in the context of pathogenic heterozygous mutations in COPA. Given the potential significance of this result for patient management, we investigated the STING HAQ haplotype status of a separate cohort of individuals segregating pathogenic mutations in COPA. In doing so, we ascertained five HAQ-negative, clinically asymptomatic individuals aged 30, 39, 39, 42, and 43 years at last evaluation, and an HAQ-positive male with kidney disease that we consider most likely attributable to the recurrent R233H mutation in COPA. Our findings challenge the suggestion that STING haplotype status is the sole determinant of clinical penetrance in COPA syndrome.
Indexed as
HaplotypesHereditary Autoinflammatory DiseasesMembrane ProteinsAdultFemaleHumansMaleMutationPenetranceSTING ProteinMembrane ProteinsSTING1 protein, humanSTING Protein
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome. · full record | Socratic