X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review
10.3760/cma.j.issn.0578-1310.2018.01.013
- VernacularTitle: X连锁镁离子通道缺陷原发性免疫缺陷病家系研究并文献复习
- Author:
Tingyan HE
1
;
Yu XIA
;
Changgang LI
;
Chengrong LI
;
Zhongxiang QI
;
Jun YANG
Author Information
1. Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen 518038, China
- Publication Type:Clinical Trail
- Keywords:
Anemia, hemolytic, autoimmune;
Immunodeficiency syndrome;
Genetic diseases
- From:
Chinese Journal of Pediatrics
2018;56(1):48-52
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN).
Methods:Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene’or'XMEN’.
Results:The proband, a 2-year-eight-month old boy, was admitted due to 'Urine with deepened color for two days and yellow stained skin for one day’. He had suffered from recurrent upper respiratory tract infection and sinusitis previously. Hemoglobin level was 38 g/L. The absolute count of reticulocytes was 223.2×109/L. Urobilinogen level was 38 μmol/L (3-16 μmol/L). Coomb's test was positive. Both total (77.2 μmol/L) and indirect bilirubin (66 μmol/L) levels were elevated. There was an inverted CD4+/CD8+T cell ratio (0.89). The gene sequencing results showed MAGT1 gene c.472delG, p.D158Mfs*6 mutation. His 1-year-6-month old brother, was also identified to have MAGT1 gene c.472delG, p.D158Mfs*6 mutation.The younger brother mainly suffered from recurrent upper respiratory tract infection, accompanied by an inverted CD4+/CD8+T cell ratio (0.45), an elevated ratio and number of total B cells (45.7%). A total of 7 reports were retrieved including 11 male cases caused by MAGT1 gene mutation. These 11 cases were characterized by EBV viremia (11 cases), recurrent upper respiratory tract infection, otitis media or sinusitis (10 cases), secondary neoplasia diseases (8 cases), reduction of CD4+/CD8+ T cell ratio (7 cases),and autoimmune thrombocytopenia or hemolytic anemia (2 cases).
Conclusion:XMEN often manifests as male onset, recurrent upper respiratory tract infection, otitis media or sinusitis, EBV viremia, lymphoproliferative disease or lymphoma, autoimmune diseases and reduction of CD4+/CD8 +T cell ratio. NKG2D expression in NK cells is significantly reduced, and gene sequencing analysis shows a pathogenic mutation in MAGT1 gene.
