ReviewCurrent opinion in hematology2009
Genetic and molecular diagnosis of severe congenital neutropenia.
Review in Current opinion in hematology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 48 citations in OpenAlex.
- Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.International journal of molecular sciences · 2026Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.Frontiers in immunology · 2024Article
- Primary immunodeficiency diseases in the newborn.Northern clinics of Istanbul · 2021Review
- The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.Human genetics · 2020Review
- Zebrafish Granulocyte Colony-Stimulating Factor Receptor Maintains Neutrophil Number and Function throughout the Life Span.Infection and immunity · 2019Article
- Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.Frontiers in pediatrics · 2018Article
- Relationship between paediatric CT scans and subsequent risk of leukaemia and brain tumours: assessment of the impact of underlying conditions.British journal of cancer · 2016Article
- Granulocyte colony-stimulating factor receptor mutations in myeloid malignancy.Frontiers in oncology · 2014Review
- A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.Journal of clinical immunology · 2013Article
- Molecular mechanisms regulating NETosis in infection and disease.Seminars in immunopathology · 2013Review
- Hematopoietic stem cell transplantation for severe congenital neutropenia.Current opinion in hematology · 2012Review
- SerpinB1 protects the mature neutrophil reserve in the bone marrow.Journal of leukocyte biology · 2011Article
- Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.Pediatric reports · 2011Article
- Article
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 has been a well known hematological condition for over 50 years. Over this long period of time, the variable genetic causes and associated sequelae of the disease have been ascertained, and successful treatment strategies developed. Over the past 2 years, however, new studies have added greatly to our understanding of the molecular basis of the disease, details of which are presented in this review. RECENT
findingsRecent studies have elucidated a role for the unfolded protein response in mediating the pathogenic effects of ELA2 mutations, the most common mutation in severe congenital neutropenia (SCN) as well as cyclic neutropenia. Genetic lesions in HAX1 have also been identified in the original Kostmann pedigree representing the autosomal recessive form of SCN. An emerging theme is the convergence of these and other genetic lesions underlying SCN in enhancing neutrophil apoptosis. Other studies have revealed the importance of multiple independent mutations in these and other genes in SCN. Finally, the key role for signal transducer and activator of transcription 5 in mediating the effects of granulocyte colony-stimulating factor receptor truncation mutations in the development of myelodysplastic syndrome/acute myeloid leukemia following SCN has been elucidated. SUMMARY: As the full spectrum of molecular mutations causing neutropenia emerges, it is becoming possible to differentiate patients into subtypes with different prognoses, for whom tailored therapies are indicated.
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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.