Objective To identify ELANE gene mutations in 2 Chinese cases with congenital neutropenia and to better understand the clinical characters,diagnosis and treatment of this rare disease. Methods Clinical data of the two cases with congenital neutropenia were collected,including clinical manifestations,trends of the absolute neutrophil count( ANC ),and immunological function. All 5 exons and flanking regions of ELANE gene were sequenced for the two cases and their families. Results Two cases were diagnosed as neutropenia at the age of 3 months and 1 month respectively,characterized with recurrent infections,including recurrent pneumonia in one case and oral mucosa ulcer in the other. Two cases presented with persistent neutropenia with the ANC less than 1. 5 × 109 ·L-1 ,the lowest ANC reached 0. 01 × 109 ·L-1 for case 1 and 0. 09 × 109 ·L-1 for case 2,respectively. Screening of blood serum and bone marrow was performed to exclude pathogenic infection,autoimmune disease and hematological malignancies. The respiratory burst of neutrophils and cellular immune function of both cases were normal,except for the elevated serum IgG level. Case 1 had c. 661G>GT(p. G221GX)heterozygous nonsense mutation in ELANE gene,case 2 had c. 377C>CT(p. S126SL)heterozygous missense mutation. No mutation was found in their family members. Case 2 received hematopoietic stem cell transplantation( HSCT)and presented with normal ELANE gene afterwards,case 1 was treated with G-CSF,both were followed up. Conclusion ELANE gene is the critical pathogenic gene for congenital neutropenia. HSCT is the effective radical treatment for this rare disease.%目的：总结2例中性粒细胞弹性蛋白酶（ ELANE）基因突变的先天性粒细胞减少症患儿的临床特征、基因诊断及治疗方法，提高对该病的认识。方法分析2例先天性粒细胞减少症患儿的临床表现，外周血中性粒细胞绝对计数（ ANC）变化，中性粒细胞呼吸爆发功能及其体液、细胞免疫功能，对ELANE基因5个外显子及外显子相邻区域进行直接测序，分析突变位点，探讨其治疗方法。结果①例1生后3个月反复肺部感染，例2生后1个月反复规律性口腔黏膜溃疡。②2例外周血ANC持续低于1.5×109·L-1，例1最低为0.01×109·L-1，例2最低为0.09×109·L-1，2例均排除感染、自身免疫性疾病及血液系统疾病。免疫功能评价：2例中性粒细胞呼吸爆发功能均正常，IgG升高，细胞免疫功能正常。③血ELANE基因分析发现：例1存在 c.661G ＞GT（ p. G221GX）杂合无义突变，其父母基因检测未发现突变。例2存在c.377C＞CT（p. S126SL）杂合错义突变，其胞姐和父母基因检测未发现突变。2个突变位点均为国内首次报道的已知致病突变，例1和2确诊年龄分别为3.25岁和13.5岁。④治疗：例2接受同胞造血干细胞移植成功，术后ELANE基因检测未发现突变，免疫重建成功；例1接受粒细胞集落刺激因子治疗。目前2例均在随访中。结论 ELANE基因是先天性粒细胞减少症的重要致病基因，造血干细胞移植是先天性粒细胞减少症的有效根治手段。
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