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

• Main Authors: Patcharee Komvilaisak (Author), Najwa Yudhasompop (Author), Kittima Kanchanakamhaeng (Author), Suradej Hongeng (Author), Samart Pakakasama (Author), Usanarat Anurathapan (Author), Pongpak Pongphitcha (Author), Duantida Songdej (Author), Werasak Sasanakul (Author), Nongnuch Sirachainan (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...