ArticleExpert opinion on orphan drugs2017
Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.
Article in Expert opinion on orphan drugs, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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.
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
31 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Permissive skin microbiomes in WHIM syndrome: HPV and pathogen expansion.The Journal of investigative dermatology · 2026Article
- Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.The Journal of clinical investigation · 2026Article
- 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
- Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.Frontiers in immunology · 2026Article
- Article
- Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.Neuron · 2025Article
- Risk of Superficial Fungal Infections in WHIM Syndrome.Dermatology and therapy · 2025Article
- Recalcitrant tinea capitis in WHIM syndrome.Skin health and disease · 2025Article
- Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.Blood advances · 2024Article
- CRISPR/Cas9-mediated Cxcr4 disease allele inactivation for gene therapy in a mouse model of WHIM syndrome.Blood · 2023Article
- Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.JCI insight · 2023Article
- Genetics of severe congenital neutropenia as a gateway to personalized therapy.Hematology. American Society of Hematology. Education Program · 2022Article
- Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Frontiers in genetics · 2022Review
- Precision medicine: The use of tailored therapy in primary immunodeficiencies.Frontiers in immunology · 2022Review
- Primary and Acquired Immunodeficiencies Associated With Severe Varicella-Zoster Virus Infections.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2021Review
- When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.Journal of clinical immunology · 2021Review
- The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.BMC molecular and cell biology · 2021Article
- Determinants of neurological syndromes caused by varicella zoster virus (VZV).Journal of neurovirology · 2020Review
- Human inborn errors of immunity to herpes viruses.Current opinion in immunology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
21
introductionWHIM syndrome is a rare combined primary immunodeficiency disorder caused by autosomal dominant gain-of-function mutations in the chemokine receptor CXCR4. It is the only Mendelian condition known to be caused by mutation of a chemokine or chemokine receptor. As such, it provides a scientific opportunity to understand chemokine-dependent immunoregulation in humans and a medical opportunity to develop mechanism-based treatment and cure strategies. 22 AREAS COVERED: This review covers the clinical features, genetics, immunopathogenesis and clinical management of WHIM syndrome. Clinical trials of targeted therapeutic agents and potential cure strategies are also included. 23 EXPERT OPINION: WHIM syndrome may be particularly amenable to mechanism-based therapeutics for three reasons: 1) CXCR4 has been validated as the molecular target in the disease by Mendelian genetics; 2) the biochemical abnormality is excessive CXCR4 signaling; and 3) antagonists selective for CXCR4 have been developed. Plerixafor is FDA-approved for hematopoietic stem cell (HSC) mobilization and has shown preliminary safety and efficacy in phase I clinical trials in WHIM syndrome. Gene editing may represent a viable cure strategy, since chromothriptic deletion of the disease allele in HSCs resulted in clinical cure of a patient and because CXCR4 haploinsufficiency enhances engraftment of transplanted HSCs in mice.
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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.