ArticleAnnals of hematology2011
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
Article in Annals of hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.Life science alliance · 2024Article
- Sputum neutrophil elastase and its relation to pediatric bronchiectasis severity: A cross-sectional study.Health science reports · 2022Article
- Extended Cleavage Specificity of Human Neutrophil Elastase, Human Proteinase 3, and Their Distant Ortholog Clawed Frog PR3-Three Elastases With Similar Primary but Different Extended Specificities and Stability.Frontiers in immunology · 2018Article
- Neutrophil serine proteases in antibacterial defense.Current opinion in microbiology · 2015Review
- Educational paper: Defects in number and function of neutrophilic granulocytes causing primary immunodeficiency.European journal of pediatrics · 2011Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant congenital neutropenias. Using a small-scale linkage analysis with markers around the ELANE, CSF3R, CSF3 and GFI1 genes, we were able to determine that the disease segregated with markers around the ELANE gene. We identified a novel mutation in the ELANE gene in all of the affected family members that was not present in any of the healthy family members. The mutation leads to an A28S missense mutation in the mature protein. None of these patients developed leukaemia. This is the first truly multigenerational family with mutations in ELANE as unambiguous cause of severe congenital neutropenia SCN.
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Registered trials
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