Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation

Autor:	Sioban Keel, Marshall S. Horwitz, Mercy Y. Laurino
Rok vydání:	2019
Předmět:	Male 0301 basic medicine Neutropenia Neutrophils Mutant Biology Leukocyte Count Young Adult 03 medical and health sciences 0302 clinical medicine Genome editing hemic and lymphatic diseases medicine Humans Genetic Predisposition to Disease Allele Genetic Association Studies Genetics Hematology Gene deletion Gene deletion mutation medicine.disease Peripheral blood Blood Cell Count 030104 developmental biology 030220 oncology & carcinogenesis Exceptional Case Report Chromosome Deletion Leukocyte Elastase Gene Deletion
Zdroj:	Blood Advances. 3:2470-2473
ISSN:	2473-9537 2473-9529
DOI:	10.1182/bloodadvances.2019000498
Popis:	Key Points The patient reported here, along with collective observations in the literature, suggest that ELANE deletion does not cause neutropenia. Potential therapeutic genome editing involving knockout of the mutant ELANE allele is therefore not expected to produce neutropenia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a364cfa51f6366e1de65b5451e662177 https://doi.org/10.1182/bloodadvances.2019000498 Zobrazit plný text záznamu