Prenatal diagnosis of primary immunodeficiency disease: analysis of 19 cases
10.3760/cma.j.cn113903-20240506-00326
- VernacularTitle:原发性免疫缺陷病的产前诊断：19例分析
- Author:
Hengyuan ZHANG
1
;
Ke YANG
;
Fei YU
;
Liangjie GUO
;
Jinming WANG
;
Guiyu LOU
;
Qiaofang HOU
Author Information
1. 郑州大学人民医院（河南省人民医院）医学遗传研究所，郑州 450003
- Publication Type:Journal Article
- Keywords:
Primary immunodeficiency disease;
Gene mutation;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(6):497-503
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the genetic variant characteristics of primary immunodeficiency diseases (PID) in families from Henan Province.Methods:This study conducted a retrospective analysis of 19 PID pedigrees referred to the Prenatal Diagnosis Center at Henan Provincial People's Hospital between January 2016 and March 2024. Among the 19 families, 13 underwent prenatal diagnosis at our hospital, while the remaining six received genetic counseling based on third-party genetic testing reports (confirmed by our institution's laboratory). The clinical data from these families were analyzed, and descriptive statistical analysis was applied to the data.Results:Among the 19 PID families, there were seven cases of combined immunodeficiency, three immunodeficiency syndromes, three phagocyte deficiencies, three antibody-dominant immunodeficiencies, and three immunodysregulatory disorders, involving a total of 12 genes ( IL2RG, ADA, RAG2, STAT3, SMARCAL1, ATM, POLA1, CYBB, BTK, RAB27A, LRBA, IL10R). A total of 25 genetic variants were identified, including 11 novel variants not previously documented in the ClinVar and HGMD professional databases. The novel variants comprised: IL2RG gene mutations (Exon5_8del and c.903_904delinsCT leading to p.E302*), ADA gene mutation (c.884A>G resulting in p.D295G), RAG2 gene mutation (c.513dupA causing p.W172Mfs3), POLA1 gene mutation (c.25+5G>C), CYBB gene mutations (c.824G>A/p.G275D and c.472A>T/p.K158), BTK gene mutations (c.522_523insC/p.A175fs and c.142-2A>C), and RAB27A gene mutations (c.121delA/p.T41fs and c.272delA/p.D91fs). Among the 13 families undergoing prenatal diagnosis, genetic testing revealed that 11 fetuses carried wild-type genes, and these families elected to continue their pregnancies. One fetus exhibited identical genetic variants to the proband and received a clinical diagnosis consistent with the genetic disorder, while another fetus demonstrated chromosomal copy number variations. In both of these latter cases, the families opted for pregnancy termination. Conclusion:This study identified 11 unreported variants across seven genes, highlighting the need for further expansion of PID genetic variant databases.
