ReviewJournal of clinical immunology2019
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Review in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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.
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.
Who cites it
59 citing papers in PubMed, 98 citations in OpenAlex.
- Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.Journal of clinical immunology · 2026Trial
- Trial
- A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.The Journal of clinical investigation · 2023Trial
- Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.Blood · 2020Trial
- Article
- Somatic Genetic Rescue of Immunodeficiency in WHIM Syndrome.The New England journal of medicine · 2026Article
- CXCR4 coordinates adhesion, migration, and development of human NK cells.bioRxiv : the preprint server for biology · 2026Article
- Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.The Journal of clinical investigation · 2026Article
- Stromal-Derived Factor-1 (SDF-1/CXCL12) and Skin Wound Healing Research at the Intersection Between Regenerative Biology and Medicine.International journal of molecular sciences · 2026Review
- 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 · 2026Article
- CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9.Haematologica · 2026Article
- Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.Frontiers in immunology · 2026Article
- Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.Frontiers in immunology · 2026Review
- Unraveling the therapeutic landscape of approved non-peptide macrocycles.Acta pharmaceutica Sinica. B · 2025Review
- Diagnosis and management of neutropenia.Blood research · 2025Review
- Structural insights into CXCR4 modulation and oligomerization.Nature structural & molecular biology · 2025Article
- Unveiling WHIM syndrome: Mavorixafor's emerging role in immune restoration and therapy.Clinical and experimental immunology · 2025Review
- Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.Frontiers in immunology · 2025Article
- CXCR4 antagonism corrects neutrophil abnormalities and reduces pneumonia severity in a pharmacological mouse model of CXCR2 loss-of-function-mediated neutropenia.Frontiers in immunology · 2025Article
- Expanding the genetic landscape of congenital neutropenia:Haematologica · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow; monocytopenia and lymphopenia, especially B lymphopenia, also commonly occur. WHIM syndrome is usually caused by autosomal dominant mutations in the G protein-coupled chemokine receptor CXCR4 that impair desensitization, resulting in enhanced and prolonged G protein- and β-arrestin-dependent responses. Accordingly, CXCR4 antagonists have shown promise as mechanism-based treatments in phase 1 clinical trials. This review is based on analysis of all 105 published cases of WHIM syndrome and covers current concepts, recent advances, unresolved enigmas and controversies, and promising future research directions.
Indexed as
Identifiers
What Socratic holds
Registered trials
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.