ArticleAnnals of the rheumatic diseases2018
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Annals of the rheumatic diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02735824 (Genetic Study of Immunodeficiency), which is not on this map. Cited by 32 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 3 pooled it
3.4field-weighted citation impact, top 6% of its field
What it found
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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.
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.Journal of clinical immunology · 2026Pooled it
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.Journal of clinical immunology · 2023Pooled it
- Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency.Journal of clinical immunology · 2026Article
- In vivo profiling of astrocyte secretome reveals brain-region specific regulatory networks in a mouse model of amyloid pathology.Molecular neurodegeneration · 2026Article
- Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.Frontiers in immunology · 2026Article
- Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia.Frontiers in immunology · 2026Article
- Two complementingRNA biology · 2025Article
- Long-term benefits of TUDCA supplement in ARSACS zebrafish model.Scientific reports · 2025Article
- SIFD-associated TRNT1 deficiency unveils importance of TSPO during macrophage antibacterial and antiviral responses.Frontiers in immunology · 2025Article
- Mast cell activation and degranulation in acute artery injury: A target for post-operative therapy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Spontaneous, simultaneous bilateral osteonecrosis of the femoral heads in a patient with sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay syndrome.BMJ case reports · 2023Article
- Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).Journal of clinical immunology · 2023Article
- Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.Frontiers in pediatrics · 2023Article
- Case report: Muscle involvement in a Chinese patient withFrontiers in pediatrics · 2023Article
- Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.Clinical rheumatology · 2021Review
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
- Roles of tRNA metabolism in aging and lifespan.Cell death & disease · 2021Review
- Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.Journal of clinical immunology · 2021Review
Corrections and comments
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Authors and funding
49 authors at 20 institutions in 8 countries.
Angeliki GiannelouInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Hongying WangInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Qing ZhouInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Yong Hwan ParkInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Mones S Abu-AsabSection of Histopathology, National Eye Institute, Bethesda, Maryland, USA.
Kris YlayaExperimental Pathology Laboratory, National Cancer Institute, Bethesda, Maryland, USA.
Deborah L StoneInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Anna SedivaDepartment of Immunology Charles, University and University Hospital Motol, Prague, Czech Republic.
Rola SleimanDr. Sulaiman Al Habib Al Rayan Hospital, Riyadh, Saudi Arabia.
Lucie SramkovaDepartment of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czech Republic.
Deepika BhatlaSSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, St. Louis, Missouri, USA.
Elisavet SertiLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.
Wanxia Li TsaiTranslational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Dan YangLaboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Kevin BishopZebrafish Core, National Human Genome Research Institute, Bethesda, Maryland, USA.
Blake CarringtonZebrafish Core, National Human Genome Research Institute, Bethesda, Maryland, USA.
Wuhong PeiZebrafish Core, National Human Genome Research Institute, Bethesda, Maryland, USA.
Natalie DeuitchInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Stephen BrooksBiodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Jehad H EdwanPediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Sarita JoshiDepartment of Pathology, The Cleveland Clinic, Cleveland, Ohio, USA.
Seraina PraderDepartment of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Daniela KaiserDepartment of Pediatric Rheumatology, Children's Hospital, Lucerne, Switzerland.
William C OwenChildren's Cancer and Blood Disorders Center, Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.
Abdullah Al SonbulKing Faisal Specialist Hospital &Research Center, Riyadh, Saudi Arabia.
Yu ZhangLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
Julie E NiemelaDepartment of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Shawn M BurgessZebrafish Core, National Human Genome Research Institute, Bethesda, Maryland, USA.
Manfred BoehmLaboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Barbara RehermannLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.
JaeJin ChaeInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Martha M QuezadoLaboratory of Pathology, National Cancer Institute, Bethesda, Maryland, USA.
Amanda K OmbrelloInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Rebecca H BuckleyDepartments of Pediatrics and Immunology, Duke University Medical Center, Durham, North Carolina, USA.
Alexi A GromDivision of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Elaine F RemmersInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Jana M PachlopnikDepartment of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Helen C SuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
Gustavo Gutierrez-CruzLaboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Stephen M HewittExperimental Pathology Laboratory, National Cancer Institute, Bethesda, Maryland, USA.
Raman SoodZebrafish Core, National Human Genome Research Institute, Bethesda, Maryland, USA.
Kimberly RismaDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Katherine R CalvoDepartment of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Sergio D RosenzweigDepartment of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Massimo GadinaTranslational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Markus HafnerDivision of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Hong-Wei SunBiodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Daniel L KastnerInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
National Human Genome Research Institute · USNational Institute of Arthritis and Musculoskeletal and Skin Diseases · USNational Cancer Institute · USNational Institutes of Health Clinical Center · USCincinnati Children's Hospital Medical Center · USNational Heart Lung and Blood Institute · USNational Institute of Allergy and Infectious Diseases · USNational Institute of Diabetes and Digestive and Kidney Diseases · USUniversity Children's Hospital Zurich · CHZebra Technologies (United States) · USAl Noor Hospitals · AEBiota Pharmaceuticals (United States) · USCenter for Cancer and Blood Disorders · USCenter for Rheumatology · USCharles University · CZCleveland Clinic · USDuke Medical Center · USKing Faisal Specialist Hospital & Research Centre · SANational Eye Institute · USSaint Louis University · US
Funding
Translational Immunology research: a support for clinical immunological researchZICAR041181 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI GADINA, MASSIMO · 2009 to 2025
$31.5MGenetics, Pathophysiology, and Treatment of Recessive Autoinflammatory DiseasesZIAHG200372 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2025
$27.2MStudies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0MVascular remodeling in patients with rare genetic disordersZIAHL006077 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI BOEHM, MANFRED · 2010 to 2025
$22.9MDefining New Human Immunodeficiency and Immunodysregulation DisordersZIAAI001059 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$20.5MZebrafish targeted mutagenesis and functional genomicsZIAHG000183 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2009 to 2025
$16.7MiPS-technology and patient specific disease modelsZIAHL006079 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI BOEHM, MANFRED · 2010 to 2025
$14.4MHearing regeneration in zebrafishZIAHG200386 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2012 to 2025
$12.5MHigh Throughput Next Generation Sequencing: supports genomics and epigenomics research in muscle, skin, bone and autoimmune diseases.ZICAR041207 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI DELL'ORSO, STEFANIA · 2016 to 2025
$12.3MNHGRI/DIR Zebrafish CoreZICHG200351 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOOD, RAMAN · 2015 to 2025
$12.1MRole of the innate immune defenses in viral infectionsZIADK054516 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI REHERMANN, BARBARA · 2009 to 2023
$11.3MApplying Bioinformatics to Research in Immune, Muscle, and Bone DiseasesZIHAR041173 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI GADINA, MASSIMO · 2009 to 2020
$11.0MAbstract
objectivesTo characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in
methodsWe studied nine patients with biallelic mutations in
resultsWe identified eight mutations in these nine patients, three of which have not been previously associated with SIFD. Three patients died in early childhood. Inflammatory cytokines, mainly interleukin (IL)-6, interferon gamma (IFN-γ) and IFN-induced cytokines were elevated in the serum, whereas tumour necrosis factor (TNF) and IL-1β were present in tissue biopsies of patients with active inflammatory disease. Deep tRNA sequencing of patients' fibroblasts showed significant deficiency of mature cytosolic tRNAs. EM of bone marrow and skin biopsy samples revealed striking abnormalities across all cell types and a mix of necrotic and normal-appearing cells. By immunoprecipitation, we found evidence for dysregulation in protein clearance pathways. In 4/4 patients, treatment with a TNF inhibitor suppressed inflammation, reduced the need for blood transfusions and improved growth.
conclusionsMutations of
Indexed as
MutationAdultAnemia, SideroblasticAnti-Inflammatory AgentsChildChild, PreschoolCytokinesDevelopmental DisabilitiesExome SequencingFemaleGenetic Diseases, X-LinkedHumansImmunologic Deficiency SyndromesImmunophenotypingMaleNucleotidyltransferasesAnti-Inflammatory AgentsCytokinesNucleotidyltransferasesRNA, TransferTNF protein, humanTRNT1 protein, humanTumor Necrosis Factor-alphaanti-TNF therapyautoinflammationcongenital sideroblastic anemia with immunodeficiencydevelopmental delay (SIFD)feversTNF inhibitorstRNATRNT1
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LicenceCC BY-NC
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Registered trials
NCT02735824ClinicalTrials.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.