Evidence map›Paper›PMID 39040098›Full record

ReviewFrontiers in immunology2024

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.

Katarina Zmajkovicova, Keith Nykamp, Grace Blair, Melis Yilmaz, Jolan E Walter

Abstract readReview
In one paragraph

Review in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. WHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026
    Article
  4. 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

5 authors.

Katarina ZmajkovicovaX4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.
Keith NykampInvitae, San Francisco, CA, United States.
Grace BlairDivision of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL, United States.
Melis YilmazDivision of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL, United States.
Jolan E WalterDivision of Allergy and Immunology, Department of Medicine, 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

Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the

Indexed as

Primary Immunodeficiency DiseasesReceptors, CXCR4WartsGenetic Association StudiesGenetic Predisposition to DiseaseHumansImmunologic Deficiency SyndromesMutationCXCR4 protein, humanReceptors, CXCR4congenital neutropeniaCXCR4functional assaysgenetic testingprimary immunodeficiency diseaseWHIM syndrome

Identifiers

PMID39040098
PMCPMC11260667

What OpenQuestion 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 OpenQuestion graph.