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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Библиографические подробности

Главные авторы:	Patcharee Komvilaisak, Najwa Yudhasompop, Kittima Kanchanakamhaeng, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Pongpak Pongphitcha, Duantida Songdej, Werasak Sasanakul, Nongnuch Sirachainan
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2023-11-01
Серии:	BMC Pediatrics
Предметы:	Severe congenital neutropenia Cyclic neutropenia ELANE Gene
Online-ссылка:	https://doi.org/10.1186/s12887-023-04428-w
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