ArticleScience immunology2018
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
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Article in Science immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers.
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103citing papers in PubMed
8.9field-weighted citation impact, top 1% of its field
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Who cites it
103 citing papers in PubMed, 187 citations in OpenAlex.
- Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.The Journal of clinical investigation · 2020Trial
- Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy.Journal of human immunity · 2026Article
- Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.The Journal of allergy and clinical immunology · 2026Observational
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- IgE Production Beyond Classical T-Cell Help.Immune network · 2026Review
- Bridging Rare to Common Diseases: Precision Medicine and the Transforming Landscape of Pediatric Allergy and Immunology.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Review
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity.Frontiers in genetics · 2026Article
- STAT3 regulates NK and NKT cell differentiation through C-X3-C motif chemokine receptor 1 (CX3CR1) in hyper-IgE syndrome.Molecular biomedicine · 2025Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Dermatologic presentations of hyper IgE syndrome in pediatric patients.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Cytokine signaling defects in primary atopic diseases-an updated review.Frontiers in allergy · 2025Review
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Clinical immunology (Orlando, Fla.) · 2024Article
- Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.Life (Basel, Switzerland) · 2024Review
- A genome-wide association study of adults with community-acquired pneumonia.Respiratory research · 2024Article
- Phenotypes of 126 Moroccan HIES patients according to NIH Score.La Tunisie medicale · 2024Article
43 more citing papers are in PubMed but not listed here.
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Authors and funding
61 authors at 20 institutions in 8 countries.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. anne.puel@inserm.fr jean-laurent.casanova@rockefeller.edu vivien.beziat@inserm.fr.ORCID 0000-0002-4020-824X
Juan LiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Jian-Xin LinLaboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Peng LiLaboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Aziz BousfihaClinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Isabelle PellierPediatric Hemato-Oncology Unit, University Hospital of Angers, 49933 Angers, France.
Samaneh ZoghiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.
Safa BarisMarmara University School of Medicine, Department of Pediatrics, Division of Allergy and Immunology, 34899 Istanbul, Turkey.
Sevgi KelesNecmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, 42060 Konya, Turkey.
Paul GrayDepartment of Immunology and Infectious Diseases, Sydney Children's Hospital, Randwick, New South Wales 2031, Australia.
Ning DuLaboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Yi WangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0002-1985-3404
Yoann ZerbibLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0002-9937-6096
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0002-6393-0198
Thibaut LeclercqLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Frédégonde AboutLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0002-3561-8041
Ai Ing LimInnate Immunity Unit, Institut Pasteur, 75015 Paris, France.
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.ORCID 0000-0003-3311-5210
Simon J PelhamImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.ORCID 0000-0002-3119-662X
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Elissa K DeenickImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.ORCID 0000-0002-9271-0004
Bethany PillayImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Janet ChouDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
Romain GueryLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Antoine GuérinLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0001-6810-1607
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0003-3062-1214
Vimel RattinaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.ORCID 0000-0002-0801-0102
Fatima AilalClinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Ibtihal BenhsaienClinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Tanwir HabibSidra Medicine, Doha, Qatar.ORCID 0000-0002-2301-2704
Damien ChaussabelSidra Medicine, Doha, Qatar.ORCID 0000-0002-6131-7242
Nico MarrSidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Jamel El-BennaINSERM-U1149, CNRS-ERL8252, Center for Research on Inflammation, Labex Inflamex, Paris Diderot University, Faculté de Médecine, Xavier Bichat Medical School, 75018 Paris, France.
Bodo GrimbacherCenter for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-6897-6806
Orli WargonDepartment of Paediatric Dermatology, Sydney Children's Hospital, High Street, Randwick, New South Wales 2031, Australia.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Ingrid Müller-FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Bernhard FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Marie-Olivia ChandesrisDepartment of Hematology, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Matthias TiteuxParis Descartes University, Imagine Institute, 75015 Paris, France.ORCID 0000-0001-7386-2769
Sylvie FraitagDepartment of Pathology, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Marie-Alexandra AlyanakianImmunology Laboratory, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Marianne Leruez-VilleVirology Laboratory, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.ORCID 0000-0001-7513-7894
Capucine PicardParis Descartes University, Imagine Institute, 75015 Paris, France.
Isabelle MeytsDepartment of Immunology and Microbiology, Childhood Immunology, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000 Leuven, Belgium.
James P Di SantoInnate Immunity Unit, Institut Pasteur, 75015 Paris, France.ORCID 0000-0002-7146-1862
Alain HovnanianParis Descartes University, Imagine Institute, 75015 Paris, France.ORCID 0000-0003-3412-7512
Ayper SomerIstanbul University, Istanbul Medical Faculty, Division of Infectious Diseases and Immunology, 34452 Istanbul, Turkey.ORCID 0000-0002-7827-1113
Ahmet OzenMarmara University School of Medicine, Department of Pediatrics, Division of Allergy and Immunology, 34899 Istanbul, Turkey.
Nima RezaeiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.
Talal A ChatilaDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0001-7439-2762
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Warren J LeonardLaboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.ORCID 0000-0002-5740-7448
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.ORCID 0000-0002-5360-5180
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. anne.puel@inserm.fr jean-laurent.casanova@rockefeller.edu vivien.beziat@inserm.fr.ORCID 0000-0003-2603-0323
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. anne.puel@inserm.fr jean-laurent.casanova@rockefeller.edu vivien.beziat@inserm.fr.ORCID 0000-0002-7782-4169
Inserm · FRGarvan Institute of Medical Research · AUNational Heart Lung and Blood Institute · USUniversity of Hassan II Casablanca · MABoston Children's Hospital · USDélégation Paris 5 · FRFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHospital for Sick Children Pediatric Center · USMarmara University · TRUniversal Scientific Education and Research Network · IRCentre National de la Recherche Scientifique · FRHôpital Necker-Enfants Malades · FRHoward Hughes Medical Institute · USIstanbul University · TRKU Leuven · BENecmettin Erbakan University · TRRockefeller University · USSydney Children's Hospital · AUUniversité d'Angers · FRUniversity of Freiburg · DE
Funding
IL-2 Family Cytokines and their Receptors-- Biology of the IL-2 systemZIAHL005401 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI LEONARD, WARREN J · 2009 to 2025
$22.5MMolecular Basis of Hyper lgE ImmunodeficiencyR01AI065617 · NIAID · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Talal Amine Chatila · 2006 to 2026
$10.9MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8MMolecular, immunological, and clinical dissection of STAT1 hypermorphic mutationsU01AI109697 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, HOLLAND, STEVEN M · 2013 to 2015
$1.3MHoward Hughes Medical InstituteNIAID NIH HHS R01 AI065617NIAID NIH HHS R01 AI127564NIAID NIH HHS U01 AI109697
Abstract
Heterozygosity for human
Indexed as
AdolescentAdultCell DifferentiationCell NucleusConsanguinityCytokinesExome SequencingExonsFemaleGene Expression RegulationGenes, RecessiveHomozygoteHumansImmunoglobulin EJob SyndromeLoss of Function MutationCytokinesImmunoglobulin ERNA, MessengerSTAT3 protein, humanSTAT3 Transcription FactorTranscription FactorsZNF341 protein, human
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