ArticleJournal of immunology (Baltimore, Md. : 1950)2021
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
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Article in Journal of immunology (Baltimore, Md. : 1950), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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44citing papers in PubMed, 2 pooled it
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Highly neutralizing anti-IFN-ω autoantibodies underlie severe pediatric adenovirus infection.Journal of human immunity · 2026Article
- Host Genetic Susceptibility and Antiviral Immunity Shape the Pathogenesis and Outcomes of Herpes Simplex Encephalitis.Biology · 2026Review
- Two novel kindreds with autosomal recessive STAT2 deficiency.Journal of human immunity · 2026Article
- Viral infection and brain inflammation with seizures in PARK7 deficiency.Journal of human immunity · 2026Article
- STAT1 signaling controls cholesterol metabolism in epithelial cells and RSV-induced syncytia formation.Npj viruses · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency.Journal of human immunity · 2025Article
- Interferons in health and disease.Cell · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.The American journal of tropical medicine and hygiene · 2025Article
- The intersection of influenza infection and autoimmunity.Frontiers in immunology · 2025Review
- JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.Frontiers in immunology · 2025Review
- A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.Frontiers in immunology · 2025Article
- Uncovering hidden immune defects in childhood granulomatous disorders: a case report.Frontiers in immunology · 2025Article
- Infections in Inborn Errors of STATs.Pathogens (Basel, Switzerland) · 2024Review
- Review
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Authors and funding
47 authors at 20 institutions in 17 countries.
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France; jacinta.bustamante@inserm.fr levoyertom@gmail.com.
Sonoko SakataDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Miyuki TsumuraDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Taushif KhanDivision of Translational Medicine, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Ana Esteve-SoleClinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain.ORCID 0000-0002-0542-0587
Bandar K Al-SaudDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hatice Eke GungorDepartment of Pediatrics, Pediatric Allergy and Immunology Unit, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey.ORCID 0000-0002-0102-8123
Prasad TaurDepartment of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Valentine Jeanne-JulienLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Mette ChristiansenDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus N, Denmark.ORCID 0000-0001-5158-3670
Lisa-Maria KöhlerDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Gehad Eltayeb ElGhazaliSheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.ORCID 0000-0002-2822-161X
Shiho NishimuraDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Fumiaki SakuraDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Carmen Oleaga-QuintasLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.ORCID 0000-0002-6057-0959
Alejandro Nieto-PatlánLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.ORCID 0000-0002-8668-6853
Àngela Deyà-MartinezClinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Yasemin Altuner TorunPediatric Hematology and Oncology Unit, Istinye University, School of Medicine, İstanbul, Turkey.
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.ORCID 0000-0002-8573-6820
Manon RoynardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.ORCID 0000-0003-0668-002X
Sefika Elmas BozdemirPediatric İnfectious Disease Unit, Department of Pediatrics, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey.
Nawal Al KaabiSheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.ORCID 0000-0003-2180-4158
Moza Al HassaniSheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Irina MersiyanovaMolecular Biology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.ORCID 0000-0003-0471-2956
Flore RozenbergDepartment of Virology, Cochin Hospital, University of Paris, Assistance Publique Hôpitaux de Paris, Paris, France.
Carsten SpeckmannCenter for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ina HainmannDepartment of Pediatric Hematology and Oncology, University Hospital Bonn, Bonn, Germany.
Fabian HauckDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0001-9644-2003
Mohammed Hamdan AlzahraniPediatric Department, Security Forces Hospital, Riyadh, Saudi Arabia.
Sami Hussain AlhajjarDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID 0000-0003-4664-9748
Saleh Al-MuhsenDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Theresa ColeDepartment of Immunology, The Royal Children's Hospital, Melbourne, Australia.ORCID 0000-0002-8272-4074
Ramsay FuleihanDivision of Allergy & Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Peter D ArkwrightDepartment of Paediatric Allergy and Immunology, Lydia Becker Institute of Immunology and Inflammation, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.ORCID 0000-0002-7411-5375
Raffaele BadolatoInstitute of Molecular Medicine Angelo Nocivelli, University of Brescia, Civil Hospital of Brescia, Brescia, Italy.
Laia AlsinaClinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain.ORCID 0000-0002-3559-0018
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Mukesh DesaiDepartment of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Hamoud Al-MousaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Anna ShcherbinaDepartment of Clinical Immunology and Allergy, Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.ORCID 0000-0002-3113-4939
Nico MarrDivision of Translational Medicine, Sidra Medicine, Doha, Qatar.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Satoshi OkadaDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France; jacinta.bustamante@inserm.fr levoyertom@gmail.com.
Inserm · FRHiroshima University · JPKing Faisal Specialist Hospital & Research Centre · SAHospital Sant Joan de Déu Barcelona · ESShaikh Khalifa Medical City · AEBai Jerbai Wadia Hospital for Children · INLudwig-Maximilians-Universität München · DEQatar Airways (Qatar) · QAAarhus University Hospital · DKBrescia University · USDmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUHoward Hughes Medical Institute · USIstinye University · TRKayseri Eğitim ve Araştırma Hastanesi · TRKayser (Italy) · ITLa Jolla Institute for Immunology · USLurie Children's Hospital · USRoyal Children's Hospital · AUSecurity Forces Hospital · SAUniversité Paris Cité · FR
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI095983NIAID NIH HHS R37 AI095983
Abstract
Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections. We report the genetic, immunological, and clinical features of an international cohort of 32 patients from 20 kindreds: 24 patients with complete deficiency, and 8 patients with partial deficiency. Twenty-four patients suffered from mycobacterial disease (bacillus Calmette-Guérin = 13, environmental mycobacteria = 10, or both in 1 patient). Fifty-four severe viral episodes occurred in sixteen patients, mainly caused by
Indexed as
Hematopoietic Stem Cell TransplantationLymphohistiocytosis, HemophagocyticMycobacterium bovisMycobacterium InfectionsHumansSTAT1 Transcription FactorSTAT1 protein, humanSTAT1 Transcription Factor
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