ReviewNature reviews. Disease primers2017
Severe congenital neutropenias.
Review in Nature reviews. Disease primers, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 198 papers, 1 of them a synthesis that pooled it.
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
198 citing papers in PubMed, 1 synthesis or guideline pooled it, 364 citations in OpenAlex.
- Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.Frontiers in immunology · 2024Pooled it
- Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.Genes & diseases · 2027Article
- Metagenome and Metabolic Pathways in Plaque Biofilms of Thai ELANE-Associated Neutropenic Patients: An Original Study and Scoping Review.European journal of dentistry · 2026Article
- SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.Leukemia · 2026Article
- Engineered lipid nanoparticles for in vivo and durable editing of haematopoietic stem cells within humanized mice.Nature biomedical engineering · 2026Article
- Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family.The Journal of international medical research · 2026Article
- Diagnosis and management of neutropenia in adults: Expert guidance.British journal of haematology · 2026Review
- Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation.Cureus · 2026Article
- Improvement of Alveolar Bone in a Child with Severe Congenital Neutropenia: Long-Term Clinical Outcomes.Dentistry journal · 2026Article
- Evaluation of bone mineral density in patients with severe congenital neutropenia: experience of six centers in Turkey.Scientific reports · 2026Article
- Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.Molecular genetics & genomic medicine · 2026Article
- Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.International journal of molecular sciences · 2026Article
- Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis.Blood advances · 2026Article
- CLPB deficiency-associated congenital neutropenia: A rare case report and literature review.Medicine · 2026Review
- Article
- Beyond the Neutrophil Count: Functional Profiling and Targeted Modulation of Neutrophils in Paediatric Care.Journal of innate immunity · 2026Review
- Crohn's Disease Phenotype in a Patient With Severe Congenital Neutropenia Caused by CSF3R Variants: Exploring the Pathogenesis and Effects of Thalidomide Treatment.Journal of immunology research · 2026Article
- Real-world outcomes and safety of inetetamab plus pyrotinib and chemotherapy in HER2-positive metastatic breast cancer: A multicenter retrospective study.Therapeutic advances in medical oncology · 2026Article
- Case Report: A rare adult case ofFrontiers in immunology · 2026Article
- Gastroenterological disorders in inborn errors of immunity. Part 2B. Overview of selected diseases.Przeglad gastroenterologiczny · 2026Review
138 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 3 countries.
Funding
Abstract
Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway. The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. Molecular events in the malignant progression include acquired mutations in CSF3R (encoding G-CSF receptor) and subsequently in other leukaemia-associated genes (such as RUNX1) in a majority of patients. Diagnosis is based on clinical manifestations, blood neutrophil count, bone marrow examination and genetic and immunological analyses. Daily subcutaneous G-CSF administration is the treatment of choice and leads to a substantial increase in blood neutrophil count, reduction of infections and drastic improvement of quality of life. Haematopoietic stem cell transplantation is the alternative treatment. Regular clinical assessments (including yearly bone marrow examinations) to monitor treatment course and detect chromosomal abnormalities (for example, monosomy 7 and trisomy 21) as well as somatic pre-leukaemic mutations are recommended.
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.