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

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

Abstract

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

CLC Number:

R593.3

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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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.02.012

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

Figures/Tables 6

References 8

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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