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Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene
- Source :
- BMC Pediatrics, Vol 23, Iss 1, Pp 1-7 (2023)
- Publication Year :
- 2023
- Publisher :
- BMC, 2023.
-
Abstract
- Abstract Background Congenital neutropenia is a rare disease. Recurrent infections since young age are the presentation. The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene. The objectives of this study were to screen the three common genetic mutations of ELANE, HAX1 and GFI1 in children with chronic neutropenia and to describe the clinical characteristics of children who had the mutations. Methods Infants having ANC 1 year having ANC
- Subjects :
- Severe congenital neutropenia
Cyclic neutropenia
ELANE Gene
Pediatrics
RJ1-570
Subjects
Details
- Language :
- English
- ISSN :
- 14712431 and 68401981
- Volume :
- 23
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- BMC Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.55db97815d6840198156412f03f6e48d
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s12887-023-04428-w