ArticleProceedings of the National Academy of Sciences of the United States of America2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 2 pooled it
4.9field-weighted citation impact, top 4% of its field
What it found
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The trial behind it
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 82 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
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.The Journal of experimental medicine · 2026Article
- RNA-binding proteins and ribonucleoproteins as determinants of immunity.Nature reviews. Immunology · 2026Review
- Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.Journal of clinical immunology · 2026Article
- Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.Journal of human immunity · 2026Article
- A Novel Murine Model of Hemophagocytic Lymphohistiocytosis-Like Inflammation in ZNFX1 Deficiency.European journal of immunology · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Analysis of nontuberculous mycobacterial infections in Saudi children from a tertiary care hospital perspective.Journal of clinical tuberculosis and other mycobacterial diseases · 2025Article
- A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.Journal of clinical immunology · 2025Article
- RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies.Orphanet journal of rare diseases · 2025Article
- Human LY9 governs CD4Science immunology · 2025Article
- ATP functions as a pathogen-associated molecular pattern to activate the E3 ubiquitin ligase RNF213.Nature communications · 2025Article
- Repression of ZNFX1 by LncRNA ZFAS1 mediates tobacco-induced pulmonary carcinogenesis.Cellular & molecular biology letters · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- ZNFX1: a multifunctional modulator of the innate immune response.Frontiers in immunology · 2025Review
- Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Stress Granules in Infectious Disease: Cellular Principles and Dynamic Roles in Immunity and Organelles.International journal of molecular sciences · 2024Review
- The human disease-associated gene ZNFX1 controls inflammation through inhibition of the NLRP3 inflammasome.The EMBO journal · 2024Article
Corrections and comments
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Authors and funding
40 authors at 16 institutions in 8 countries.
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0002-8573-6820
Rui YangSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Masato OgishiSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0002-2822-161X
Fayhan AlroqiImmunology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
Maha AlshalanGenetics & Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
Sophie BlumentalPaediatric Infectious Diseases Unit, Queen Fabiola Children's University Hospital, 1020 Brussels, Belgium.ORCID 0000-0003-4460-3420
Fatima Al AliResearch Branch, Sidra Medicine, Doha, Qatar.
Taushif KhanResearch Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Manar AtaResearch Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-7111-5719
Laurence RozenLaboratory of Hematology LHUB-ULB, Free University of Brussels ULB, 1020 Brussels, Belgium.ORCID 0000-0003-4345-7409
Anne DemulderLaboratory of Hematology LHUB-ULB, Free University of Brussels ULB, 1020 Brussels, Belgium.ORCID 0000-0002-5198-8536
Paul BastardLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0002-5926-8437
Conor GruberDepartment of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Manon RoynardLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Yoann SeeleuthenerLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Benedetta BigioSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Danielle SngLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, Agency for Science, Technology and Research, 138648 Singapore.
Laureline BertelootPediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0001-9681-3142
Nathalie BoddaertImagine Institute, University of Paris, 75015 Paris, France.ORCID 0000-0003-0991-7774
Flore RozenbergVirology Laboratory, Cochin Hospital, University of Paris, 75014 Paris, France.
Saleh Al-MuhsenImmunology Research Laboratory, College of Medicine, King Saud University, Riyadh 114362, Saudi Arabia.
Aida Bertoli-AvellaDepartment of Genomic Research, CENTOGENE GmbH, 18055 Rostock, Germany.ORCID 0000-0001-9544-1877
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Dusan BogunovicLaboratory of Hematology LHUB-ULB, Free University of Brussels ULB, 1020 Brussels, Belgium.
Nico MarrResearch Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Davood MansouriPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran 19569-44413, Iran.
Fuad Al MutairiKing Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11426, Saudi Arabia.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0002-4020-824X
Dominique WeilLaboratory of Biology of Development, Institute of Biology Paris Seine (IBPS), CNRS, Sorbonne University, 75005, Paris, France.ORCID 0000-0001-7630-1772
Seyed Alireza MahdavianiPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran 19569-44413, Iran.ORCID 0000-0001-6224-4797
Alina FersterHemato-oncology Unit, Queen Fabiola Children's University Hospital, Brussels 1020, Belgium.ORCID 0000-0002-9920-8359
Shen-Ying ZhangLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Bruno ReversadeLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, Agency for Science, Technology and Research, 138648 Singapore.ORCID 0000-0002-4070-7997
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France; jean-laurent.casanova@rockefeller.edu jacinta.bustamante@inserm.fr.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, 75015 Paris, France; jean-laurent.casanova@rockefeller.edu jacinta.bustamante@inserm.fr.ORCID 0000-0002-3439-2482
Inserm · FRRockefeller University · USAgency for Science, Technology and Research · SGKing Saud bin Abdulaziz University for Health Sciences · SAMasih Daneshvari Hospital · IRQueen Fabiola Children's University Hospital · BEUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRCentogene (Germany) · DECentre National de la Recherche Scientifique · FRChild Health and Development Institute · USHamad bin Khalifa University · QAHôpital Necker-Enfants Malades · FRIcahn School of Medicine at Mount Sinai · USKing Abdulaziz Medical City · SAKing Saud University · SA
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MMonogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Anne Puel · 2017 to 2026
$4.8MGenome-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
$2.5MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kNCATS NIH HHS UL1 TR001866NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI095983NIAID NIH HHS R37 AI095983NIH HHS S10 OD018521
Abstract
Human inborn errors of IFN-γ underlie mycobacterial disease, due to insufficient IFN-γ production by lymphoid cells, impaired myeloid cell responses to this cytokine, or both. We report four patients from two unrelated kindreds with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis, and without any known inborn error of IFN-γ. The patients are homozygous for
Indexed as
A549 CellsAdolescentAntigens, NeoplasmCells, CulturedChildCytoplasmic GranulesFemaleHEK293 CellsHeLa CellsHomozygoteHumansInfantInterferon-gammaLeukocytosisMaleMutationAntigens, NeoplasmInterferon-gammaZNFX1 protein, humaninborn error of immunityinflammationmonocytosismycobacteriaZNFX1
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