Article
Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.
BMC pediatrics - 23 Nov 2023
Komvilaisak Patcharee, Yudhasompop Najwa, Kanchanakamhaeng Kittima, Hongeng Suradej, Pakakasama Samart, Anurathapan Usanarat, Pongphitcha Pongpak, Songdej Duantida, Sasanakul Werasak, Sirachainan Nongnuch
Abstract excerpt
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...
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