ArticleThe Journal of experimental medicine2017
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Registry-linked trialOpen access · bronzeAbstract readCase Reports
In one paragraph
Article in The Journal of experimental medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00895271 (Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders), which is not on this map. Cited by 100 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
100citing papers in PubMed, 2 pooled it
7.0field-weighted citation impact, top 2% of its field
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.
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.
Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Who cites it
100 citing papers in PubMed, 2 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.Virus research · 2020Pooled it
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.Human genetics · 2021Trial
- Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness.Frontiers in immunology · 2019Trial
- The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.The Journal of experimental medicine · 2018Trial
- Loss of cellular RNA homeostasis contributes to MDA5 activation during virus infection.Nature immunology · 2026Article
- Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).The Journal of experimental medicine · 2026Article
- Alternative splicing broadens antiviral diversity at the human OAS2 locus.The EMBO journal · 2026Article
- The rhinovirus puzzle: Linking virus and host factors to childhood asthma.The Journal of allergy and clinical immunology · 2026Review
- Human RIG-I Antiviral Deficiency Caused by a Dominant-Negative Variant Locked in a Signaling-Inactive State.medRxiv : the preprint server for health sciences · 2026Article
- Viral infection and brain inflammation with seizures in PARK7 deficiency.Journal of human immunity · 2026Article
- MDA5 regulates BCR signaling and B-cell function via NF-κB-mediated DNM1.Cellular & molecular immunology · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.Respiratory research · 2025Article
- The potential impacts of human genetics on virus emergence.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Distinct circulating autoantibodies are associated with COVID-19 hospitalization and SARS-CoV-2 neutralization activity.Npj viruses · 2025Article
- Review
- MDA5 variants trade antiviral activity for protection from autoimmune disease.BMC medical genomics · 2025Article
- Recent developments inMicrobiology and molecular biology reviews : MMBR · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
40 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 7 institutions in 2 countries.
Ian T LambornLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Huie JingLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Yu ZhangLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Scott B DrutmanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID http://orcid.org/0000-0002-4222-5684
Jordan K AbbottImmunodeficiency Diagnosis and Treatment Program, Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver, CO.ORCID http://orcid.org/0000-0001-6334-5266
Shirin MunirLaboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Sangeeta BadeMedical Science & Computing, LLC, Rockville, MD.
Heardley M MurdockLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Celia P SantosLaboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Linda G BrockLaboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Evan MasutaniLaboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Emmanuel Y FordjourLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID http://orcid.org/0000-0002-8786-8974
Joshua J McElweeMerck Research Laboratories, Merck and Co, Boston, MA.ORCID http://orcid.org/0000-0002-4888-7152
Jason D HughesMerck Research Laboratories, Merck and Co, Boston, MA.ORCID http://orcid.org/0000-0002-8965-5382
Dave P NicholsDivision of Pediatric Pulmonary Medicine, Department of Pediatrics, National Jewish Health, Denver, CO.ORCID http://orcid.org/0000-0001-8611-7960
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR1163, Necker Hospital for Sick Children, Paris, France.ORCID http://orcid.org/0000-0002-8488-9737
Andrew J OlerBioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID http://orcid.org/0000-0002-6310-0434
Corinne S HappelLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID http://orcid.org/0000-0003-3512-6175
Helen F MatthewsLaboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID http://orcid.org/0000-0001-7016-6493
Peter L CollinsLaboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Kanta SubbaraoLaboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Erwin W GelfandImmunodeficiency Diagnosis and Treatment Program, Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver, CO.
Michael J CiancanelliSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID http://orcid.org/0000-0002-4623-852X
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID http://orcid.org/0000-0002-7782-4169
Helen C SuLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD hsu@niaid.nih.gov.ORCID http://orcid.org/0000-0002-5582-9110
National Institutes of Health · USNational Jewish Health · USInserm · FRMerck & Co., Inc., Rahway, NJ, USA (United States) · USHoward Hughes Medical Institute · USMemorial Sloan Kettering Cancer Center · USRockefeller University · US
Funding
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MLaboratory And Pre-clinical Studies Of Parainfluenza VirusesZIAAI000327 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI BUCHHOLZ, URSULA · 2009 to 2025
$23.7MDefining New Human Immunodeficiency and Immunodysregulation DisordersZIAAI001059 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$20.5MInvestigational Cancer Therapeutics Training Program (ICTTP)T32CA009207 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Omar Abdel-Wahab, Alexander Drilon · 1985 to 2026
$13.7MSummer research experiences for medical students supervised by faculty mentorsR25CA020449 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Charlotte Eielson Ariyan · 1985 to 2026
$6.2MCAP:Evaluation of a Dengue Vaccine in Adults with Preexisting Flavivirus ImmunityZIAAI001167 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI WHITEHEAD, STEPHEN · 2012 to 2024
$918kNCATS NIH HHS UL1 TR000043NCI NIH HHS R25 CA020449NCI NIH HHS T32 CA009207
Abstract
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in
Indexed as
MutationAntiviral AgentsBase SequenceCells, CulturedChild, PreschoolDNA Mutational AnalysisFemaleFibroblastsGene ExpressionGenes, RecessiveHeterozygoteHomozygoteHost-Pathogen InteractionsHumansInterferon-Induced Helicase, IFIH1InterferonsAntiviral AgentsIFIH1 protein, humanInterferon-Induced Helicase, IFIH1Interferons
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390
Registered trials
NCT00895271ClinicalTrials.gov
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 OpenQuestion graph.