Evidence map›Paper›PMID 26077134›Full record

ReviewSeminars in immunopathology2015

Advances in the genetically complex autoinflammatory diseases.

Michael J Ombrello

Abstract readReview
In one paragraph

Review in Seminars in immunopathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. The Expanding Spectrum of Autoinflammatory Diseases.Internal medicine (Tokyo, Japan) · 2023
    Article
  5. New insights on multigenic autoinflammatory diseases.Therapeutic advances in musculoskeletal disease · 2022
    Review
  6. Article
  7. Increased Prevalence ofFrontiers in immunology · 2020
    Observational
  8. Investigations of cellular immunity in juvenile idiopathic arthritis.Central-European journal of immunology · 2019
    Review
  9. Review
  10. Article
  11. Article
  12. 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

1 author.

Michael J OmbrelloTranslational Genetics and Genomics Unit, Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 10 Center Drive, MSC 1560 Building 10, Room 10C101C, Bethesda, MD, 20892-1560, USA, Michael.Ombrello@nih.gov.

Funding

Genetics and pathophysiology of systemic juvenile idiopathic arthritis and other complex autoinflammatory diseasesZIAAR041198 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI OMBRELLO, MICHAEL · 2014 to 2025
$14.4M
Intramural NIH HHS Z99 AR999999Intramural NIH HHS ZIA AR041198
6 · The paper itself

Abstract

Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity. Interestingly, investigations of these genetically complex autoinflammatory diseases have implicated both innate and adaptive immune abnormalities, blurring the line between autoinflammation and autoimmunity. This reinforces the paradigm of concerted innate and adaptive immune dysfunction leading to genetically complex autoinflammatory phenotypes.

Indexed as

Genetic Association StudiesMultifactorial InheritanceAutoimmune DiseasesHereditary Autoinflammatory DiseasesHumansInflammationSyndrome

Identifiers

PMID26077134
PMCPMC4559483

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Registered trials

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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.