Evidence map›Paper›PMID 31581173›Full record

ReviewPediatric research2020

Rheumatological manifestations in inborn errors of immunity.

Sevgi Köstel Bal, Julia Pazmandi, Kaan Boztug, Seza Özen

Open access · hybridAbstract readReview
PubMed Publisher
In one paragraph

Review in Pediatric research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.1field-weighted citation impact, top 53% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

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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

4 authors at 3 institutions in 2 countries.

Sevgi Köstel BalLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Julia PazmandiLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Kaan Boztug *Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. kaan.boztug@ccri.at.
Seza Özen *Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey. sezaozen@hacettepe.edu.tr.
Austrian Academy of Sciences · ATHacettepe University · TRLudwig Boltzmann Institute for Rare and Undiagnosed Diseases · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation. Recent advances in genetic technologies have helped uncover multiple variants associated with disease susceptibility; however, a precise understanding of genotype-phenotype relationships is still missing. Inborn errors of immunity (IEIs), in addition to recurrent infections, may also present with autoimmune and autoinflammatory rheumatologic manifestations and have provided insights for understanding the underlying the principles of immune system homeostasis and mechanisms of immune dysregulation. This review discusses the rheumatologic manifestations in IEIs with overlapping and differentiating features in immunodeficiencies and rheumatologic disorders.

Indexed as

AutoimmunityAnimalsGenetic Predisposition to DiseaseHumansImmune SystemPhenotypePrimary Immunodeficiency DiseasesRheumatic DiseasesRisk AssessmentRisk Factors

Identifiers

PMID31581173
OpenAlexW2979186942

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.