Evidence map›Paper›PMID 42445192›Full record

ArticleFrontiers in immunology2026

Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.

Marialaura Mastrovito, Fatima Al-Naimi, Maria Carla Giarratana, Gianluca Dell'Orso, Damiano Lemmi, Federica Raggi, Katarina Zmajkovicova, Lars Karlsson, Sandra Zehentmeier, Maurizio Miano

Abstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2026. 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

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5 · Who and what money

Authors and funding

10 authors.

Marialaura Mastrovito *X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Fatima Al-Naimi *X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Maria Carla GiarratanaHaematology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Gianluca Dell'OrsoHaematology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Damiano LemmiHaematology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Federica RaggiHaematology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Katarina ZmajkovicovaX4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Lars KarlssonX4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Sandra ZehentmeierX4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Maurizio MianoHaematology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

WHIM syndrome is a rare primary immunodeficiency disorder caused by gain-of-function mutations of the chemokine receptor CXCR4, leading to abnormal and exacerbated leukocyte trafficking. It is associated with severe neutropenia and lymphopenia, and recurrent infections. Few pediatric cases have been reported, but comprehensive analyses of the composition and function of peripheral lymphocyte populations in pediatric WHIM syndrome are lacking. Here we report the case of a 6-year-old male patient carrying a

Indexed as

B-LymphocytesImmunologic Deficiency SyndromesLymphocyte SubsetsWartsChildCytopeniaGain of Function MutationHumansLymphocyte ActivationLymphopeniaMalePrimary Immunodeficiency DiseasesReceptors, CXCR4CXCR4 protein, humanReceptors, CXCR4case reportCXCR4 gain-of-functionlymphocyte functionmyelokathexisneutropeniaprimary immunodeficiencyWHIM syndrome

Identifiers

PMID42445192
PMCPMC13357159

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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.