X-linked immunodeficiency with hyper-immunoglobulin M
10.3760/cma.j.issn.2095-428X.2018.04.010
- VernacularTitle:X连锁高免疫球蛋白M血症
- Author:
Yong YIN
1
;
Jing ZHANG
Author Information
1. 国家儿童医学中心/上海交通大学医学院附属上海儿童医学中心呼吸科
- Keywords:
X-linked immunodeficiency with hyper-immunoglobulin M;
CD40L gene;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):280-282
- CountryChina
- Language:Chinese
-
Abstract:
X-linked immunodeficiency with hyper-immunoglobulin(Ig) M is a primary immunodeficiency disease,mainly due to the mutation of coding CD40 ligand(CD40L),which results in the dysfunction of immunoglobulin class switching that causes in a normal or increased IgM level,and a marked decrease in IgG,IgA and IgE level.The clinical manifestations are recurrent infection,neutropenia,and autoimmune disease or tumor.
