ReviewBritish journal of haematology2014
Genetics on a WHIM.
Review in British journal of haematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 48 citations in OpenAlex.
- Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.Blood advances · 2024Article
- Mavorixafor: First Approval.Drugs · 2024Review
- Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice.Blood advances · 2023Article
- Case Report: A NovelFrontiers in immunology · 2022Article
- A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.Haematologica · 2021Article
- A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.The Journal of molecular diagnostics : JMD · 2021Article
- New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.Vaccines · 2020Review
- Neutrophils as emerging therapeutic targets.Nature reviews. Drug discovery · 2020Review
- Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.Current opinion in hematology · 2020Article
- WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.Journal of clinical immunology · 2019Review
- Heterologous regulation of CXCR4 lysosomal trafficking.The Journal of biological chemistry · 2019Article
- Review
- New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.Hematology. American Society of Hematology. Education Program · 2017Review
- Germline mutations predisposing to diffuse large B-cell lymphoma.Blood cancer journal · 2017Review
- Human polyomaviruses and incidence of cutaneous squamous cell carcinoma in the New Hampshire skin cancer study.Cancer medicine · 2016Article
- WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).Journal of clinical immunology · 2016Article
- Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.Journal of the American Academy of Dermatology · 2015Review
- Chromothriptic cure of WHIM syndrome.Cell · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused by a heterozygous mutation in the CXCR4 gene. Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop. In this review, we will focus on the clinical manifestations, pathophysiology, diagnosis and possible therapies for this rare entity.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.