ReviewCurrent opinion in allergy and clinical immunology2007
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?
Review in Current opinion in allergy and clinical immunology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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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.
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Who cites it
13 citing papers in PubMed, 46 citations in OpenAlex.
- A deficiency screen of the 3rd chromosome for dominant modifiers of the Drosophila ER integral membrane protein, Jagunal.G3 (Bethesda, Md.) · 2023Article
- Acquired and hereditary bone marrow failure: A mitochondrial perspective.Frontiers in oncology · 2022Review
- Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.Medicine · 2019Article
- Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.The Journal of clinical investigation · 2018Article
- Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.Journal of clinical immunology · 2015Article
- Dynamic interactions of neutrophils and biofilms.Journal of oral microbiology · 2014Article
- A congenital neutrophil defect syndrome associated with mutations in VPS45.The New England journal of medicine · 2013Article
- Animal models of human granulocyte diseases.Hematology/oncology clinics of North America · 2013Review
- Article
- Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.Iranian journal of pediatrics · 2010Article
- Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease.Clinical reviews in allergy & immunology · 2010Review
- Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.Molecular and cellular biology · 2009Article
- A syndrome with congenital neutropenia and mutations in G6PC3.The New England journal of medicine · 2009Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
purpose of reviewSevere congenital neutropenia is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial infections. Severe congenital neutropenia occurs with sporadic, autosomal dominant, autosomal recessive and X-linked recessive inheritance, as well as in a variety of multisystem syndromes. A principal stimulus for this review is the identification of novel genetic defects and pathophysiological insights into the role of neutrophil apoptosis. RECENT
findingsThe recent findings include identification of mutations in HAX1 in autosomal recessive severe congenital neutropenia (Kostmann disease), a large epidemiological study estimating the risk of progression from severe congenital neutropenia to leukemia, a better understanding of how heterozygous mutations in neutrophil elastase (ELA2) cause severe congenital neutropenia, molecular characterization of a novel syndromic form of severe congenital neutropenia called p14 deficiency and new animal models for several syndromic forms of severe congenital neutropenia. SUMMARY: We consider the numerous genes mutated in severe congenital neutropenia, the many attempts to make animal models of severe congenital neutropenia, and the results from both human and mouse studies investigating the molecular mechanisms of neutrophil apoptosis. Investigations of how severe congenital neutropenia genes and apoptosis pathways are connected should lead to a better understanding of the pathogenesis of neutropenia and apoptosis pathways relevant to many cell types.
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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.