Evidence map›Paper›PMID 41300767›Full record

ArticleGenes2025

A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.

Dafna Brik Simon, Yarden Greental Ness, Orly Dgany, Sharon Noy-Lotan, Tanya Krasnov, Galit Berger, Tamar Feuerstein, Jerry Stein, Aviva Kraus, Asaf Yanir and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

19 authors.

Dafna Brik SimonDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Yarden Greental NessPediatrics Department, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.
Orly DganyFelsenstein Medical Research Center, Petah Tikva 4920235, Israel.
Sharon Noy-LotanFelsenstein Medical Research Center, Petah Tikva 4920235, Israel.ORCID 0009-0001-0986-3641
Tanya KrasnovFelsenstein Medical Research Center, Petah Tikva 4920235, Israel.
Galit BergerDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Tamar FeuersteinDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Jerry SteinDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Aviva KrausDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Asaf YanirDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Assaf BargGray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 39040, Israel.ORCID 0000-0002-8329-8409
Elad JacobyGray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 39040, Israel.ORCID 0000-0003-1411-8942
Noa Mandel-ShorerDepartment of Pediatric Hematology-Oncology, Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa 3109601, Israel.
Dan HarlevThe Dyna & Fala Weinstock Department of Pediatric Hematology Oncology, Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical Center, Jerusalem 91120, Israel.
Ehud Even-OrDepartment of Bone Marrow Transplantation and Cancer Immunotherapy, Jerusalem 91120, Israel.ORCID 0000-0002-4292-6376
Hannah TamaryGray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 39040, Israel.
Oded GiladDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.
Orna Steinberg-ShemerDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.ORCID 0000-0002-1680-2388
Joanne YacobovichDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesGeographic and ethnic differences influence the genetic landscape of hemophagocytic lymphohistiocytosis (HLH) and the frequency of familial HLH (FHL); this in turn can affect outcomes.

methodsWe collected data on 98 patients treated for HLH between 1 January 2001 and 31 July 2024 at four tertiary centers, characterizing the genotype/phenotype correlations.

resultsHalf of the patients, 51 (52%), were symptomatic by age 1 year and 43 (44%) were diagnosed by that age. Our varied population included 43% Sephardic/Ashkenazi/Ethiopian Jews, 50% Muslim Arabs, and 7% Druze. Molecular analysis was performed on 90.5% of patients and revealed an FHL-related variant in 72%. The genetic variation included biallelic variants in

conclusionsOur cohort included an extremely high rate of genetic testing and detection of FHL-related variants.

Indexed as

Lymphohistiocytosis, HemophagocyticMembrane ProteinsAdolescentAdultChildChild, PreschoolFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMunc18 ProteinsMutationPerforinMembrane ProteinsMunc18 ProteinsPerforinPRF1 protein, humanRAB27A protein, humanrab27 GTP-Binding ProteinsSTXBP2 protein, humanUNC13D protein, humanfamilial HLHgenotype/phenotype associationgermline diseasehemophagocytic lymphohistiocytosis

Identifiers

PMID41300767
PMCPMC12652584

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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.