Evidence map›Paper›PMID 30936877›Full record

ArticleFrontiers in immunology2019

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Hirotsugu Oda, David B Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina and 4 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026
    Review
  5. Review
  6. The deubiquitinase OTULIN regulates tau expression and RNA metabolism in neurons.Genomic psychiatry : advancing science from genes to society · 2025
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Get Spliced: Uniting Alternative Splicing and Arthritis.International journal of molecular sciences · 2024
    Review
  12. Dominant negative OTULIN-related autoinflammatory syndrome.The Journal of experimental medicine · 2024
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Death by TNF: a road to inflammation.Nature reviews. Immunology · 2023
    Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 6 institutions in 1 country.

Hirotsugu OdaInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
David B BeckInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
Hye Sun KuehnDepartment of Laboratory Medicine, NIH Clinical Center (CC), Bethesda, MD, United States.
Natalia Sampaio MouraInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
Patrycja HoffmannInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
Maria IbarraDivision of Pediatric Rheumatology, Children's Mercy Hospital, Kansas City, MO, United States.
Jennifer StoddardDepartment of Laboratory Medicine, NIH Clinical Center (CC), Bethesda, MD, United States.
Wanxia Li TsaiOffice of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, United States.
Gustavo Gutierrez-CruzOffice of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, United States.
Massimo GadinaOffice of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, United States.
Sergio D RosenzweigDepartment of Laboratory Medicine, NIH Clinical Center (CC), Bethesda, MD, United States.
Daniel L KastnerInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, United States.
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, United States.
National Human Genome Research Institute · USNational Institutes of Health Clinical Center · USNational Institute of Arthritis and Musculoskeletal and Skin Diseases · USChildren's Mercy Hospital · USNational Institute of Allergy and Infectious Diseases · USOffice of Science · 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
$31.5M
Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory DiseasesZIAHG200372 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2025
$27.2M
Studies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0M
Flow cytometry support to research in immune, skin, muscle and bone diseasesZICAR041169 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI DELL'ORSO, STEFANIA · 2009 to 2025
$20.4M
Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2M
High 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
$12.3M
Mutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0k
Intramural NIH HHS ZIA HG200372
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Gene Expression RegulationPolymorphism, Single NucleotideTranscriptomeAllelesAlternative SplicingChildCommon Variable ImmunodeficiencyCytokinesExonsFemaleHeterozygoteHumansInflammationLymphangiectasisLymphocyte ActivationNF-kappa BCytokinesNF-kappa BRBCK1 protein, humanRNA, MessengerRNF31 protein, humanSHARPIN protein, humanTranscription FactorsUbiquitin-Protein LigasesUbiquitinsautoinflammationCVIDHOIL1HOIPLUBACprimary immunodeficiencySHARPIN

Identifiers

PMID30936877
PMCPMC6431612
OpenAlexW2921433589

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.