Cipe Funda Erol, Celiksoy Mehmet Halil, Erturk Biray, Aydogmus Çiğdem
a Department of Pediatric Allergy and Immunology , Kanuni Sultan Suleyman Education and Research Hospital , Istanbul , Turkey.
b Department of Pediatric Allergy and Immunology , Gaziosmanpasa Taksim Education and Research Hospital , Istanbul , Turkey.
Pediatr Hematol Oncol. 2018 Apr;35(3):181-185. doi: 10.1080/08880018.2018.1486489. Epub 2018 Oct 22.
Severe congenital neutropenia (SCN) includes a group of genetic disorders which cause to arrest of neutrophil maturation. SCN can be associated with heterogenous group of genetic defects in , , , , , or activating mutations in the Wiskott-Aldrich syndrome (WAS) gene. Here we report a patient who has a HAX1 mutation presented with cyclic manner. A 6 year old female patients was admitted with recurrent apthous stomatitis. We followed the patient as cyclic neutropenia according to complete blood count results 2 times for 6 weeks. After persistant neutropenia developed during a severe varicella infection, we analysed HAX1 mutation, the result was interesting and incompatible with reported cyclic neutropenia patients. We suggest that HAX1 deficiency should be thought in patients who have normal neutrophil counts in the between of infections.
严重先天性中性粒细胞减少症（SCN）包括一组导致中性粒细胞成熟停滞的遗传性疾病。SCN可能与 、 、 、 、 、 中的一组异质性遗传缺陷或威斯科特-奥尔德里奇综合征（WAS）基因的激活突变有关。在此，我们报告一名携带HAX1突变且呈周期性表现的患者。一名6岁女性患者因复发性阿弗他口炎入院。根据全血细胞计数结果，我们将该患者作为周期性中性粒细胞减少症随访了2次，为期6周。在一次严重水痘感染期间出现持续性中性粒细胞减少后，我们分析了HAX1突变，结果令人感兴趣且与报道的周期性中性粒细胞减少症患者情况不符。我们建议，对于在感染间期中性粒细胞计数正常的患者，应考虑HAX1缺乏症。
