Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene

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 g...

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Bibliographic Details
Main Authors: Patcharee Komvilaisak, Najwa Yudhasompop, Kittima Kanchanakamhaeng, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Pongpak Pongphitcha, Duantida Songdej, Werasak Sasanakul, Nongnuch Sirachainan
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Pediatrics
Subjects:
Severe congenital neutropenia
Cyclic neutropenia
ELANE Gene
Online Access:https://doi.org/10.1186/s12887-023-04428-w

Internet

https://doi.org/10.1186/s12887-023-04428-w

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