Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
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两名中国 G6PC3 突变导致的 4 型严重先天性中性粒细胞减少症患者中性粒细胞功能的改变
DOI：
10.3389/fimmu.2021.699743
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发表时间：
2021
影响因子：
7.3
通讯作者：
Zhao X
中科院分区：
文献类型：
--
作者：
Dai R;Lv G;Li W;Tang W;Chen J;Liu Q;Yang L;Zhang M;Tian Z;Zhou L;Yan X;Wang Y;Ding Y;An Y;Zhang Z;Tang X;Zhao X
SCN 4是由G6 PC 3基因突变引起的常染色体隐性遗传病。SCN 4患者的临床、分子和免疫学特征、中性粒细胞功能和预后尚未完全阐明。本研究入组了2例携带G6 PC 3突变的中国儿科患者。临床资料，遗传和免疫学特征，和中性粒细胞功能进行了评估，在患者和对照组之前和之后的粒细胞集落刺激因子（G-CSF）治疗。两例患者均有肺炎、腹股沟疝、隐睾和复发性口腔溃疡病史。患者1还患有哮喘和中耳炎，患者2表现为明显的浅表静脉扩张和炎症性肠病。DNA测序结果表明，这两名患者都携带杂合G6 PC 3基因突变。患者的自发性和FAS诱导的中性粒细胞凋亡显著增加，G-CSF治疗后仅略有改善，而中性粒细胞呼吸爆发和中性粒细胞胞外陷阱的产生在G-CSF治疗后仍受损。G-CSF治疗对于SCN 4患者是不够的，他们仍然有感染的风险。在可能的情况下，定期G-CSF治疗，长期预防感染，是治疗SCN 4患者的最佳方法。密切监测SCN 4患者的白血病体征非常重要。一旦SCN 4患者发生白血病，造血干细胞移植是最重要的治疗选择。
SCN4 is an autosomal recessive disease caused by mutations in the G6PC3 gene. The clinical, molecular, and immunological features; function of neutrophils; and prognosis of patients with SCN4 have not been fully elucidated. Two Chinese pediatric patients with G6PC3 mutations were enrolled in this study. Clinical data, genetic and immunologic characteristics, and neutrophil function were evaluated in patients and controls before and after granulocyte colony-stimulating factor (G-CSF) treatment. Both patients had histories of pneumonia, inguinal hernia, cryptorchidism, and recurrent oral ulcers. Patient 1 also had asthma and otitis media, and patient 2 presented with prominent ectatic superficial veins and inflammatory bowel disease. DNA sequencing demonstrated that both patients harbored heterozygous G6PC3 gene mutations. Spontaneous and FAS-induced neutrophil apoptosis were significantly increased in patients, and improved only slightly after G-CSF treatment, while neutrophil respiratory burst and neutrophil extracellular traps production remained impaired in patients after G-CSF treatment. G-CSF treatment is insufficient for patients with SCN4 patients, who remain at risk of infection. Where possible, regular G-CSF treatment, long-term prevention of infection, are the optimal methods for cure of SCN4 patients. It is important to monitor closely for signs of leukemia in SCN4 patients. Once leukemia occurs in SCN4 patients, hematopoietic stem cell transplantation is the most important choice of treatment.
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影响因子：
3.7
作者：
Banka S;Newman WG
通讯作者：
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影响因子：
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作者：
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影响因子：
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作者：
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影响因子：
3.5
作者：
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通讯作者：
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