医学
疾病
突变
儿科
基因检测
重症监护医学
遗传诊断
梅德林
外科
妇科
作者
Karla Daniela Martinez Lee,Beatriz Altagracia Contreras Tejada,Antonio Albarran Godinez,Guillermo Velázquez Samano,Ana Velasco,Yoselin Itzel Sanchez Perez,Circe Karime Ruiz Palafox
出处
期刊:Revista alergia Mexico
[Colegio Mexicano de Inmunología Clínica y Alergia, A.C.]
日期:2025-09-30
卷期号:72 (3): 229-229
标识
DOI:10.29262/ram.v72i3.1501
摘要
The diagnosis of NCG1 was clinically supported by severe infections, persistent neutropenia, absence of mature granulocytes in the bone marrow, and genetic confirmation. This mutation generates a premature stop codon. Other relevant variants include GFI1, HAX1, VPS45, JAGN1, CSF3R, and WAS. NCG1 should be suspected in pediatric patients with recurrent severe infections and persistent neutropenia. Early identification and the use of G-CSF can improve clinical outcome and reduce infectious complications.
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