Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria,Cell

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Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
Cell ( IF 45.5 ) Pub Date : 2023-02-02 , DOI: 10.1016/j.cell.2022.12.038
Jérémie Rosain ₁ , Anna-Lena Neehus ₂ , Jérémy Manry ₃ , Rui Yang ₄ , Jérémie Le Pen ₅ , Wassim Daher ₆ , Zhiyong Liu ₄ , Yi-Hao Chan ₄ , Natalia Tahuil ₇ , Özden Türel ₈ , Mathieu Bourgey ₉ , Masato Ogishi ₄ , Jean-Marc Doisne ₁₀ , Helena M Izquierdo ₁₁ , Takayoshi Shirasaki ₁₂ , Tom Le Voyer ₁ , Antoine Guérin ₁₃ , Paul Bastard ₁₄ , Marcela Moncada-Vélez ₄ , Ji Eun Han ₄ , Taushif Khan ₁₅ , Franck Rapaport ₄ , Seon-Hui Hong ₅ , Andrew Cheung ₅ , Kathrin Haake ₁₆ , Barbara C Mindt ₁₇ , Laura Pérez ₁₈ , Quentin Philippot ₁ , Danyel Lee ₁₉ , Peng Zhang ₄ , Darawan Rinchai ₄ , Fatima Al Ali ₁₅ , Manar Mahmoud Ahmad Ata ₁₅ , Mahbuba Rahman ₁₅ , Jessica N Peel ₄ , Søren Heissel ₂₀ , Henrik Molina ₂₀ , Yasemin Kendir-Demirkol ₂₁ , Rasheed Bailey ₄ , Shuxiang Zhao ₄ , Jonathan Bohlen ₁ , Mathieu Mancini ₂₂ , Yoann Seeleuthner ₁ , Marie Roelens ₂₃ , Lazaro Lorenzo ₁ , Camille Soudée ₁ , María Elvira Josefina Paz ₂₄ , María Laura González ₂₅ , Mohamed Jeljeli ₂₆ , Jean Soulier ₂₇ , Serge Romana ₂₈ , Anne-Sophie L'Honneur ₂₉ , Marie Materna ₁ , Rubén Martínez-Barricarte ₃₀ , Mathieu Pochon ₁ , Carmen Oleaga-Quintas ₁ , Alexandre Michev ₁ , Mélanie Migaud ₁ , Romain Lévy ₃₁ , Marie-Alexandra Alyanakian ₃₂ , Flore Rozenberg ₂₉ , Carys A Croft ₃₃ , Guillaume Vogt ₃₄ , Jean-François Emile ₃₅ , Laurent Kremer ₆ , Cindy S Ma ₁₃ , Jörg H Fritz ₃₆ , Stanley M Lemon ₁₂ , András N Spaan ₃₇ , Nicolas Manel ₁₁ , Laurent Abel ₁₉ , Margaret R MacDonald ₅ , Stéphanie Boisson-Dupuis ₁₉ , Nico Marr ₃₈ , Stuart G Tangye ₁₃ , James P Di Santo ₁₀ , Qian Zhang ₁₉ , Shen-Ying Zhang ₁₉ , Charles M Rice ₅ , Vivien Béziat ₁₉ , Nico Lachmann ₃₉ , David Langlais ₄₀ , Jean-Laurent Casanova ₄₁ , Philippe Gros ₄₂ , Jacinta Bustamante ₄₃

Affiliation

Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Institute of Experimental Hematology, REBIRTH Center for Regenerative and Translational Medicine, Hannover Medical School, 30625 Hannover, Germany.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY 10065, USA.
Infectious Disease Research Institute of Montpellier (IRIM), Montpellier University, 34090 Montpellier, France; Inserm, IRIM, CNRS, UMR9004, 34090 Montpellier, France.
Department of Immunology, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
Department of Pediatric Infectious Disease, Bezmialem Vakif University Faculty of Medicine, 34093 İstanbul, Turkey.
Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Canadian Centre for Computation Genomics, Montreal, QC H3A 0G1, Canada.
Innate Immunity Unit, Institut Pasteur, 75015 Paris, France; Inserm U1223, 75015 Paris, France.
Institut Curie, PSL Research University, Inserm U932, 75005 Paris, France.
Department of Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7292, USA.
Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; St. Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, NSW 2052, Australia.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
Department of Immunology, Sidra Medicine, Doha, Qatar.
Institute of Experimental Hematology, REBIRTH Center for Regenerative and Translational Medicine, Hannover Medical School, 30625 Hannover, Germany.
Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3A 0G1, Canada; FOCiS Centre of Excellence in Translational Immunology, McGill University, Montreal, QC H3A 0G1, Canada.
Department of Immunology and Rheumatology, "J. P. Garrahan" National Hospital of Pediatrics, C1245 CABA Buenos Aires, Argentina.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Umraniye Education and Research Hospital, Department of Pediatric Genetics, 34764 İstanbul, Turkey.
Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3A 0G1, Canada.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France; Paris Cité University, 75006 Paris, France.
Department of Pediatric Pathology, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
Central Laboratory, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
Cochin University Hospital, Biological Immunology Unit, AP-HP, 75014 Paris, France.
Inserm/CNRS U944/7212, Paris Cité University, 75006 Paris, France; Hematology Laboratory, Saint-Louis Hospital, AP-HP, 75010 Paris, France; National Reference Center for Bone Marrow Failures, Saint-Louis and Robert Debré Hospitals, 75010 Paris, France.
Rare Disease Genomic Medicine Department, Paris Cité University, Necker Hospital for Sick Children, 75015 Paris, France.
Department of Virology, Paris Cité University, Cochin Hospital, 75014 Paris, France.
Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Pathology, Microbiology, and Immunology, Vanderbilt Center for Immunobiology, Vanderbilt Institute for Infection, Immunology, and Inflammation, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.
Immunology Laboratory, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Innate Immunity Unit, Institut Pasteur, 75015 Paris, France; Inserm U1223, 75015 Paris, France; Paris Cité University, 75006 Paris, France.
Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Lille University, Lille Pasteur Institute, Lille University Hospital, 59000 Lille, France; Neglected Human Genetics Laboratory, Paris Cité University, 75006 Paris, France.
Pathology Department, Ambroise-Paré Hospital, AP-HP, 92100 Boulogne-Billancourt, France.
Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3A 0G1, Canada; FOCiS Centre of Excellence in Translational Immunology, McGill University, Montreal, QC H3A 0G1, Canada; Department of Physiology, McGill University, Montreal, QC H3A 0G1, Canada.
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584CX Utrecht, the Netherlands.
Department of Immunology, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Institute of Experimental Hematology, REBIRTH Center for Regenerative and Translational Medicine, Hannover Medical School, 30625 Hannover, Germany; Department of Pediatric Pulmonology, Allergology and Neonatology and Biomedical Research in Endstage and Obstructive Lung Disease, German Center for Lung Research, Hannover Medical School, 30625 Hannover, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, 30625 Hannover, Germany.
Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065, USA.
Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Department of Biochemistry, McGill University, Montreal, QC H3A 0G1, Canada.
Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.

Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, life-threatening diseases caused by weakly virulent mycobacteria and related intramacrophagic pathogens. These children have no history of severe viral disease, despite exposure to many viruses, including SARS-CoV-2, which is life-threatening in individuals with impaired IFN-α/β immunity. In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-γ are, both quantitatively and qualitatively, much stronger than those to IFN-α/β. Moreover, IRF1-deficient mononuclear phagocytes do not control mycobacteria and related pathogens normally when stimulated with IFN-γ. By contrast, IFN-α/β-dependent intrinsic immunity to nine viruses, including SARS-CoV-2, is almost normal in IRF1-deficient fibroblasts. Human IRF1 is essential for IFN-γ-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-α/β-dependent antiviral immunity.

中文翻译：

人 IRF1 控制巨噬细胞 IFN-γ 对分枝杆菌的免疫

人类 IFN-γ 依赖性巨噬细胞免疫的先天性错误是分枝杆菌疾病的基础，而 IFN-α/β 依赖性内在免疫的先天性错误是病毒性疾病的基础。两种类型的 IFN 都会诱导转录因子 IRF1。我们描述了患有遗传性完全IRF1缺陷和由弱毒力分枝杆菌和相关巨噬细胞内病原体引起的早发性多种危及生命疾病的无关儿童。这些儿童没有严重病毒性疾病史，尽管接触过许多病毒，包括 SARS-CoV-2，这种病毒对于 IFN-α/β 免疫力受损的个体来说是危及生命的。在体外刺激的白细胞或成纤维细胞中，IRF1 依赖性的对 IFN-γ 的反应在数量和质量上都比对 IFN-α/β 的反应强得多。此外，IRF1缺陷的单核吞噬细胞在受到IFN-γ刺激时通常不能控制分枝杆菌和相关病原体。相比之下，在 IRF1 缺陷的成纤维细胞中，对包括 SARS-CoV-2 在内的 9 种病毒的 IFN-α/β 依赖性内在免疫几乎是正常的。人 IRF1 对于分枝杆菌的 IFN-γ 依赖性巨噬细胞免疫至关重要，但对于 IFN-α/β 依赖性抗病毒免疫来说很大程度上是多余的。

更新日期：2023-02-02

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