Congenital neutropenia is strictly defined as neutropenia present at birth. However, it is more generally used to describe neutropenia secondary to inherited genetic mutations. This review will discuss the presentation of such children and the various causes of congenital neutropenia. In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in the majority of cases of SCN. The potential mechanisms of pathogenesis and of transformation to leukaemia will be discussed. Shwachman-Diamond Syndrome and other less common causes of congenital neutropenia will also be reviewed. Finally, an approach to the child with potential congenital neutropenia will be presented.

中文翻译：

---

先天性中性粒细胞减少症。

先天性中性粒细胞减少症严格定义为出生时存在的中性粒细胞减少症。但是，它更通常用于描述继发于遗传突变的中性粒细胞减少症。本文将讨论这类儿童的表现以及先天性中性粒细胞减少的各种原因。特别是，它将集中于严重的先天性中性粒细胞减少症（SCN）和大多数SCN病例中编码嗜中性粒细胞弹性蛋白酶的基因的最新发现。将讨论发病机理和向白血病转化的潜在机制。Shwachman-Diamond综合征和其他不常见的先天性中性粒细胞减少症的病因也将进行回顾。最后，将介绍一种针对潜在先天性中性粒细胞减少症儿童的方法。