Department of Pediatrics, Division of Pediatric Pulmonology.
Department of Pediatrics, Division of Pediatric Oncology.
J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e420-e423. doi: 10.1097/MPH.0000000000002110.
Cyclic neutropenia is a rare genetic disorder causing the arrest of neutrophil function and is characterized by periodic neutropenia and recurrent infections. Patients with cyclic neutropenia with autosomal dominant, sporadic, and X-linked may have mutations in the ELANE gene, and autosomal recessive cases have homozygous/compound heterozygous variants in the HAX1 gene primarily.
The authors describe a novel variant in the HAX1 gene, which was detected by next-generation sequencing in an 8-year-old male child who presented with recurrent infections and neutropenia.
The patient extends the clinical variability associated with HAX1 variants and highlights the importance of genetic investigations in patients with suspected cyclic neutropenia.
周期性中性粒细胞减少症是一种罕见的遗传性疾病，导致中性粒细胞功能停滞，其特征是周期性中性粒细胞减少和反复感染。常染色体显性遗传、散发性和 X 连锁遗传的周期性中性粒细胞减少症患者可能在 ELANE 基因中发生突变，而常染色体隐性遗传病例主要在 HAX1 基因中存在纯合子/复合杂合变异。
作者描述了 HAX1 基因中的一种新变异，该变异通过下一代测序在一名 8 岁男性患儿中被检测到，该患儿表现为反复感染和中性粒细胞减少。
该患者扩展了与 HAX1 变异相关的临床变异性，并强调了在疑似周期性中性粒细胞减少症患者中进行遗传研究的重要性。
