Evidence map›Paper›PMID 41584031›Full record

ArticleMolecular syndromology2025

A Novel Inflammatory Autoimmune-Like

Anton Karabinos, Erika Tomkova, Adriana Sprincova, Katarina Tothova, Vanda Repiska, Milos Jesenak, Peter Krizan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Anton KarabinosLaboratory of Clinical Genetics, Medirex, Inc., Kosice, Slovak Republic.
Erika TomkovaLaboratory of Clinical Genetics, Medirex, Inc., Bratislava, Slovak Republic.
Adriana SprincovaLaboratory of Clinical Genetics, Medirex, Inc., Kosice, Slovak Republic.
Katarina TothovaLaboratory of Clinical Genetics, Medirex, Inc., Bratislava, Slovak Republic.
Vanda RepiskaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovak Republic.
Milos JesenakInstitute of Clinical Immunology and Medical Genetics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovak Republic.
Peter KrizanLaboratory of Clinical Genetics, Medirex, Inc., Bratislava, Slovak Republic.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Neurotrophic tyrosine receptor kinase 1 ( Case Presentation: In this case report, we present a 40-year-old man with CIPA based on the known and novel heterozygous p.R748W and c.575-15G>A Conclusion: The finding of an inflammatory autoimmune-like disease in the presented 40-year-old patient with a normal intelligence and a reduced sweating and pain sensation indicates that this phenotype represents, besides the typical serious infantile CIPA, a novel adult-onset clinical expression of the

Indexed as

Congenital insensitivity to pain with anhidrosisExome sequencingGeneticsInflammatory autoimmune-like diseaseNTRK1

Identifiers

PMID41584031
PMCPMC12826792

What OpenQuestion holds

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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.