Evidence map›Paper›PMID 41710027›Full record

ArticleFrontiers in immunology2025

A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.

Szymon Lulek, Katarzyna Bąbol-Pokora, Monika Radwańska, Daniel Popiel, Magdalena Reich, Wojciech Młynarski, Radosław Chaber

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

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

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0cells of the map it votes in
0citing papers in PubMed
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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.

Szymon LulekStudents' Scientific Association at the Department of Pediatric Hematology and Oncology, Department of Pediatrics, University of Rzeszów, Rzeszów, Poland.
Katarzyna Bąbol-PokoraDepartment of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
Monika RadwańskaClinic of Pediatric Oncology and Hematology, State Hospital 2, Rzeszow, Poland.
Daniel PopielClinic of Intensive Care and Anesthesiology, State Hospital 2, Rzeszow, Poland.
Magdalena ReichClinic of Pediatrics and Pediatric Gastroenterology, State Hospital 2, Rzeszow, Poland.
Wojciech MłynarskiDepartment of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
Radosław ChaberClinic of Pediatric Oncology and Hematology, State Hospital 2, Rzeszow, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that may arise secondary to genetic or acquired triggers. Although HLH has been reported in patients with adenosine deaminase 2 (ADA2) deficiency, to date it has not been reported in individuals harboring pathogenic variants in

Indexed as

Adenosine DeaminaseDNA HelicasesIntercellular Signaling Peptides and ProteinsLymphohistiocytosis, HemophagocyticMutationChild, PreschoolFatal OutcomeFemaleGenetic Predisposition to DiseaseHeterozygoteHomozygoteHumansADA2 protein, humanAdenosine DeaminaseDNA HelicasesERCC6L2 protein, humanIntercellular Signaling Peptides and ProteinsADA2/DADA2 deficiencycytopeniasERCC6L2genetic predispositionhemophagocytic lymphohistiocytosis (HLH)hyperinflammationimmunodeficiency

Identifiers

PMID41710027
PMCPMC12910827

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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.