Evidence map›Paper›PMID 40725177›Full record

ArticleInternational journal of molecular sciences2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Alice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, Marta Rusmini, Paolo Uva, Isabella Ceccherini, Maria Carla Giarratana, Diego Vozzi, Irene Mavroudi, Carlo Dufour and 2 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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

12 authors.

Alice GrossiLaboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0002-4570-3485
Grigorios TsaknakisHemopoiesis Research Laboratory, School of Medicine, University of Crete, 71003 Heraklion, Greece.
Francesca RosamiliaClinical Bioinformatics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0003-4979-9397
Marta RusminiClinical Bioinformatics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0002-3109-413X
Paolo UvaClinical Bioinformatics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0002-9524-8492
Isabella CeccheriniLaboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0001-8732-1955
Maria Carla GiarratanaHaematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Diego VozziGenomics Facility, Italian Institute of Technology (IIT), 16163 Genova, Italy.
Irene MavroudiHemopoiesis Research Laboratory, School of Medicine, University of Crete, 71003 Heraklion, Greece.
Carlo DufourHaematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Helen A PapadakiHemopoiesis Research Laboratory, School of Medicine, University of Crete, 71003 Heraklion, Greece.ORCID 0000-0002-5146-9699
Francesca FioreddaHaematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Non-remitting neutropenia in children and chronic idiopathic neutropenia (CIN) in adults have been described previously as peculiar subgroups of neutropenic patients carrying similar clinical and immunological features. The present collection comprising 25 subjects (16 adults and 9 children) mostly affected with mild (84%) and moderate (16%) neutropenia aimed to identify the underlying (possibly common) genetic background. The phenotype of these patients resemble the one described previously: no severe infections, presence of rheumathological signs, leukopenia in almost all patients and lymphocytopenia in one-third of the cohort. The pediatric patients did not share common genes with the adults, based on the results of the multisample test, while some singular variants in neutropenia potentially associated with immune dysregulation likely consistent with the phenotype were found.

Indexed as

NeutropeniaAdolescentAdultChildChild, PreschoolChronic DiseaseFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPhenotypeYoung Adultchronic idiopathic neutropeniagenetic burden testnon-remitting neutropeniawhole exome sequencing

Identifiers

PMID40725177
PMCPMC12295308

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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.