RAG1基因新发变异致重症联合免疫缺陷1例报告及文献复习

doi:10.3969/j.issn.1004-583X.2022.02.012

临床荟萃 ›› 2022, Vol. 37 ›› Issue (2): 155-161.doi: 10.3969/j.issn.1004-583X.2022.02.012

RAG1基因新发变异致重症联合免疫缺陷1例报告及文献复习

崔清洋, 王梦斌, 曹银利, 唐成和()

新乡医学院第一附属医院儿科,河南卫辉 453100

收稿日期:2021-03-01 出版日期:2022-02-20 发布日期:2022-03-04
通讯作者: 唐成和 E-mail:tch8275@163.com

A case report and literature review on severe combined immunodeficiency caused by new mutation of RAG1 gene

Cui Qingyang, Wang Mengbin, Cao Yinli, Tang Chenghe()

Department of Pediatrics, First Affiliated Hospital of Xinxiang Medical University, Weihui 453100, China

Received:2021-03-01 Online:2022-02-20 Published:2022-03-04
Contact: Tang Chenghe E-mail:tch8275@163.com

摘要/Abstract

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)×10⁹/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。

关键词: 重症联合免疫缺陷, RAG1基因, 错义变异

Abstract:

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)×10⁹/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.

Key words: severe combined immunodeficiency, RAG1 gene, missense mutation

中图分类号:

R593.3

崔清洋, 王梦斌, 曹银利, 唐成和. RAG1基因新发变异致重症联合免疫缺陷1例报告及文献复习[J]. 临床荟萃, 2022, 37(2): 155-161.

Cui Qingyang, Wang Mengbin, Cao Yinli, Tang Chenghe. A case report and literature review on severe combined immunodeficiency caused by new mutation of RAG1 gene[J]. Clinical Focus, 2022, 37(2): 155-161.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2022.02.012

https://huicui.hebmu.edu.cn/CN/Y2022/V37/I2/155

图/表 6

参考文献 8

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[6]	Buelow BJ, Routes JM, Verbsky JW. Newborn screening for SCID: Where are we now?[J]. Expert Rev Clin Immunol, 2014,10(12):1649-1657. doi: 10.1586/1744666X.2014.980816 URL
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日期	白细胞 (×10⁹/L)	中性粒细胞 (×10⁹/L)	淋巴细胞 (×10⁹/L)	红细胞 (×10¹²/L)	血红蛋白 (g/L)	血小板 (×10⁹/L)
2020/01/26	14.1	13.3	0.2	4.17	144	251
2020/01/28	8.3	7.5	0.1	4.2	143	224
2020/02/02	2.6	1.18	1.1	3.66	123	449
2020/02/04	6.7	5.77	0.29	3.58	123	598
2020/02/08	4.3	3.65	0.08	3.56	119	494
2020/03/05	3.5	0.34	0.82	3.54	106	563
2020/03/06	2.6	0.68	0.45	3.14	93	475
2020/03/09	1.3	0.38	0.36	2.98	87	358
2020/03/12	3.7	1.41	0.64	2.56	76	365
2020/03/16	1.7	0.79	0.42	3.15	95	322
2020/03/18	2.3	0.89	0.51	3.4	98	314
2020/03/21	1.7	0.68	0.44	4.72	142	240
2020/03/22	1.5	0.38	0.59	4.64	138	200
2020/03/25	6.8	5.1	0.43	4.46	133	144
2020/03/28	1.3	0.47	0.34	4.29	126	142
2020/03/30	6.6	5.51	0.4	3.94	118	185
2020/04/01	1.4	0.57	0.31	4.04	119	218
2020/04/04	2.8	1.66	0.61	3.56	104	204

日期	白细胞 (×10⁹/L)	中性粒细胞 (×10⁹/L)	淋巴细胞 (×10⁹/L)	红细胞 (×10¹²/L)	血红蛋白 (g/L)	血小板 (×10⁹/L)
2020/01/26	14.1	13.3	0.2	4.17	144	251
2020/01/28	8.3	7.5	0.1	4.2	143	224
2020/02/02	2.6	1.18	1.1	3.66	123	449
2020/02/04	6.7	5.77	0.29	3.58	123	598
2020/02/08	4.3	3.65	0.08	3.56	119	494
2020/03/05	3.5	0.34	0.82	3.54	106	563
2020/03/06	2.6	0.68	0.45	3.14	93	475
2020/03/09	1.3	0.38	0.36	2.98	87	358
2020/03/12	3.7	1.41	0.64	2.56	76	365
2020/03/16	1.7	0.79	0.42	3.15	95	322
2020/03/18	2.3	0.89	0.51	3.4	98	314
2020/03/21	1.7	0.68	0.44	4.72	142	240
2020/03/22	1.5	0.38	0.59	4.64	138	200
2020/03/25	6.8	5.1	0.43	4.46	133	144
2020/03/28	1.3	0.47	0.34	4.29	126	142
2020/03/30	6.6	5.51	0.4	3.94	118	185
2020/04/01	1.4	0.57	0.31	4.04	119	218
2020/04/04	2.8	1.66	0.61	3.56	104	204

RAG1基因新发变异致重症联合免疫缺陷1例报告及文献复习

A case report and literature review on severe combined immunodeficiency caused by new mutation of RAG1 gene

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