严重型先天性中性粒细胞减少（SCN）是一种异质性疾病，家族史不一，有向骨髓增生异常综合症（MDS）和急性髓细胞白血病（AML）发展的倾向．在部分病人发现了G—GF—R基因突变点，这些无意突变导致了G—CSF诱导成熟的关键部位C末端胞浆部分的中断．G—CSF—R基因突变的SCN病更容易转变成AML，在此，简述G—CSF—R缺陷是怎样导致中性粒细胞减少和白血病的． Severe congenital neutropenia (SCN) is a heterogeneous disease with a mixed family history and has a tendency toward the development of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In some patients, G-GF-R mutations were found. These unintentional mutations led to the disruption of the C-terminal cytoplasmic part of G-CSF-induced maturation. Mutations in the G-CSF-R gene are more likely to be converted to AML. Here, we describe briefly how the G-CSF-R deficiency causes neutropenia and leukemia.