Evidence map›Paper›PMID 40909287›Full record

ArticleFrontiers in immunology2025

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.

Melis Yilmaz, Katarina Zmajkovicova, Rahim Z Miller, Grace Blair, Maryssa Ellison, Boglarka Ujhazi, Maria Chitty Lopez, Joseph F Dasso, Jacob R Bledsoe, Krisztian Csomos and 6 more

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.

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

16 authors.

Melis Yilmaz *Division of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Katarina Zmajkovicova *Research Department, Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Rahim Z MillerDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Grace BlairDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Maryssa EllisonDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Boglarka UjhaziDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Maria Chitty LopezDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Joseph F DassoDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Jacob R BledsoeDepartment of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Krisztian CsomosDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Barbara MaierhoferResearch Department, Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Adriana BadarauResearch Department, Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Joao P PereiraDepartment of Immunobiology, Yale School of Medicine, Yale University, New Haven, CT, United States.
Henry KanarekKanarek Allergy, Asthma & Immunology, Overland Park, KS, United States.
Christoph B GeierDivision of Immunology, Faculty of Medicine and Health Sciences, University Medicine Oldenburg, Oldenburg, Germany.
Jolan E WalterDivision of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

WHIM syndrome is typically caused by C-terminal gain-of-function variants in

Indexed as

Immunologic Deficiency SyndromesNF-kappa B p50 SubunitPrimary Immunodeficiency DiseasesReceptors, CXCR4WartsAdultFemaleHumansMaleMutation, MissensePedigreePhenotypeYoung AdultCXCR4 protein, humanNF-kappa B p50 SubunitNFKB1 protein, humanReceptors, CXCR4CVIDCXCR4neutropeniaNFKB1WHIM

Identifiers

PMID40909287
PMCPMC12405443

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.