The diversity of mutations and clinical outcomes for ELANE-associated neutropenia
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Summary
Sequencing is useful for predicting outcomes of ELANE-associated neutropenia and the cumulative incidence of severe adverse events was significantly greater for patients with SCN versus those with CyN or overlapping mutations.
- Type
- article
- Published
- 2015-01-01
- Cited by
- 149
- References
- 41
- Access
- Open access
- OpenAlex
- https://openalex.org/W25427142
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:42409227
Keywords
History
References
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- [A Survey of Exact Inference for Contingency Tables]: Rejoinder
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- The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia
- Neutrophil elastase, proteinase 3 and cathepsin G: physicochemical properties, activity and physiopathological functions.
- Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.
- Neutrophil granules in health and disease.
- Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.
- Severe chronic neutropenia: Treatment and follow‐up of patients in the Severe Chronic Neutropenia International Registry
- Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.
- A method and server for predicting damaging missense mutations
- Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
- Severe congenital neutropenia: new lane for ELANE.
Cited by
- Gangrenous appendicitis in a patient with severe congenital neutropenia
- Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood
- A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia
- How we diagnose and treat neutropenia in adults
- Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML.
- A Child With Septic Shock and Purpura.
- How I diagnose and treat neutropenia
- Staphylococcus aureus, phagocyte NADPH oxidase and chronic granulomatous disease
- Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events
- Role of granule proteases in the life and death of neutrophils.
- Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
- How I manage children with neutropenia
- Severe congenital neutropenias
- Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders
- Elastase inhibitors as potential therapies for ELANE‐associated neutropenia
- ESTUDIO DE NEUTROPENIAS EN LA INFANCIA
- Skin signs of primary immunodeficiencies: how to find the genes to check
- A Novel ELANE Mutation Associated with Inflammatory Arthritis, Defective NETosis, and Recurrent Parvoviral Infection
- Successful second hematopoietic cell transplantation in severe congenital neutropenia
- Expression of a specific extracellular matrix signature is a favorable prognostic factor in acute myeloid leukemia
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