摘要
目的提高重症联合免疫缺陷临床表型及基因型的认识。方法回顾性分析1例重症联合免疫缺陷患儿的临床资料及基因检测结果。结果患儿,女性,1月6天,发现体质量不增半月余。住院后并发感染且不易控制,血常规复查提示中性粒细胞绝对值波动于(0.34~5.51)×10^(9)/L,骨髓穿刺未见明显异常,粒细胞集落刺激因子治疗效果欠佳,淋巴细胞亚群符合T^(-)B^(-)NK^(+)免疫表型。全外显子测序发现RAG1基因母源性的c.1229G>A(p.Arg410Gln)、c.2428A>G(p.Ile810Val)错义变异和父源性的c.2005G>A(p.Glu669Lys)错义变异,但前者为国内首次报道,第2个为国际首次报道。结论扩充了国际及国内重症联合免疫缺陷基因变异谱。
Objective To improve the recognition on clinical phenotype and genotype of severe combined immunodeficiency.Methods The clinical data and gene detection results of severe combined immunodeficiency were analyzed retrospectively.Results A 1-month-6-day-old girl was found to have non-growing body mass for over half a month.The infection was complicated after hospitalization and it was difficult to control.Blood routine examination showed that the absolute value of neutrophile granulocytes fluctuated within(0.34-5.51)×10^(9)/L.No significant abnormality was noted in bone marrow puncture.The therapeutic effects of granulocyte colony-stimulating factor was unsatisfactory,and lymphocyte subsets conformed to T^(-)B^(-)NK^(+)immunophenotype.The complete exon sequencing showed that the maternal missense mutations of RAG1 gene satisfied c.1229G>A(p.Arg410Gln)and c.2428A>G(p.Ile810Val)and paternal c.2005 G>A(p.Glu669Lys)missense mutation of RAG1 gene,the former was firstly reported in China,and the second was the first case reported internationally.Conclusion The gene mutation spectrum of SCID in China and abroad has been expanded.
作者
崔清洋
王梦斌
曹银利
唐成和
Cui Qingyang;Wang Mengbin;Cao Yinli;Tang Chenghe(Department of Pediatrics,First Affiliated Hospital of Xinxiang Medical University,Weihui 453100,China)
出处
《临床荟萃》
CAS
2022年第2期155-161,共7页
Clinical Focus
