Evidence map›Paper›PMID 29534156›Full record

ArticleClinical infectious diseases : an official publication of the Infectious Diseases Society of America2018

IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.

Amy P Hsu, Christa S Zerbe, Ladan Foruraghi, Nicole M Iovine, Jennifer W Leiding, David M Mushatt, Laurianne Wild, Douglas B Kuhns, Steven M Holland

Abstract readCase Reports
In one paragraph

Article in Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. A novel NEMO/JAAD case reports · 2021
    Article
  7. Review
  8. Article
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

9 authors.

Amy P HsuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
Christa S ZerbeLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
Ladan ForuraghiLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
Nicole M IovineDepartment of Internal Medicine, Division of Infectious Diseases and Global Medicine, University of Florida Health, Gainesville.
Jennifer W LeidingDivision of Allergy and Immunology, Department of Pediatrics, University of South Florida at Johns Hopkins-All Children's Hospital, St Petersburg, Florida.
David M MushattSection of Infectious Diseases, Department of Medicine, New Orleans, Louisiana.
Laurianne WildSection of Clinical Immunology and Allergy, Department of Medicine, Tulane University School of Medicine, New Orleans, Louisiana.
Douglas B KuhnsNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Maryland.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.

Funding

Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6M
Transgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2M
NCI NIH HHS HHSN261200800001E
6 · The paper itself

Abstract

Four patients with adult-onset, disseminated mycobacterial infection had 5' UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.

Indexed as

RNA Splice SitesAdultEctodermal DysplasiaGenetic Diseases, X-LinkedHumansI-kappa B KinaseImmunologic Deficiency SyndromesMaleMutationMycobacterium InfectionsPrimary Immunodeficiency DiseasesSignal TransductionSkinI-kappa B KinaseIKBKG protein, humanRNA Splice Sites

Identifiers

PMID29534156
PMCPMC6051446

What OpenQuestion holds

Textmetadata
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.