ReviewPediatric blood & cancer2019
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Review in Pediatric blood & cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 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
9 citing papers in PubMed, 19 citations in OpenAlex.
- Blood plasma proteomics for detecting potential biomarkers for tick resistance in a tropically adapted beef cattle breed.BMC genomics · 2025Article
- VPS45 Contributes to the Progression of Hepatocellular Carcinoma by Triggering the Wnt/β-Catenin Signaling Pathway.Molecular carcinogenesis · 2025Article
- Engineering immune organoids to regenerate host immune system.Current opinion in genetics & development · 2024Review
- Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature.Journal of clinical immunology · 2023Review
- A humanizedmicroPublication biology · 2023Article
- SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.Journal of clinical immunology · 2022Article
- Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.Frontiers in immunology · 2020Review
- The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT.Frontiers in pediatrics · 2019Review
- Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.International journal of clinical pediatric dentistryArticle
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 3 countries.
Funding
Abstract
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to overwhelming infection and early death. This condition is exceedingly rare with only 16 patients previously reported, including four with successful hematopoietic stem cell transplantation. We review the pathophysiology underlying this condition and detail our approach to treatment, particularly vis-à-vis bone marrow transplantation and the challenges of transplanting into a diseased bone marrow niche. We provide an update on the progress of our three previously reported patients, and two additional patients transplanted at our center.
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.