Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency

TAN Jian-qiang; YAN Ti-zhen; HUANG Jun; TANG Ning; YUAN De-jian; CAI Ren

doi:10.11852/zgetbjzz2018-1134

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Chinese Journal of Child Health Care ›› 2019, Vol. 27 ›› Issue (4) : 439-442. DOI: 10.11852/zgetbjzz2018-1134

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Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency

TAN Jian-qiang, YAN Ti-zhen, HUANG Jun, TANG Ning, YUAN De-jian, CAI Ren

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Abstract

Objective To analyze the gene mutations of three male children clinically diagnosed with X-linked severe combined deficiency syndrome(X-SCID), in order to provide evidence for genetic counseling and prenatal diagnosis. Methods Interleukin-2 receptor gene (IL2RG) mutation was detected by whole exome sequencing and direct sequencing in children and family members, and prenatal diagnosis was performed in one of the families. Results The mutation of c.202G>A(p.Glu68Lys)was detected in the IL2RG gene in family 1and family 2,and the mutation of c.676C > T (p.Arg226Cys) was found in IL2RG gene of family 3.The mother of the proband found the fetus as female through prenatal diagnosis, carrying the same pathogenic gene with the proband, but this couple chose to continue the pregnancy. Conclusion Totally 3 cases of X-SCID are diagnosed by IL2RG gene detection, and successful prenatal diagnosis is given to one X-SCID family, thereby giving guidance for pregnancy of family 3.

Key words

X-linked severe combined immunodeficiency / IL2RG gene / gene mutation

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TAN Jian-qiang, YAN Ti-zhen, HUANG Jun, TANG Ning, YUAN De-jian, CAI Ren. Analysis on clinical characteristics and gene mutation of children with X-linked severe combined immunodeficiency[J]. Chinese Journal of Child Health Care. 2019, 27(4): 439-442 https://doi.org/10.11852/zgetbjzz2018-1134

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