X-linked agammaglobulinemia in children
10.3760/cma.j.issn.2095-428X.2018.04.013
- VernacularTitle:儿童X-连锁无丙种球蛋白血症
- Author:
Yong YIN
1
;
Shuhua YUAN
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 agammaglobulinemia;
Bruton tyrosine kinase gene;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):288-291
- CountryChina
- Language:Chinese
-
Abstract:
X-linked agammaglobulinemia (XLA) is one of the most common types of primary immunodeficiency disease in children,and is an antibody deficiency disease which is seen in men.Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene,they typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes.XLA is characterized by recurrent bacterial infections within 2 years,sometimes life-threatening.The prognosis of XLA has been improved by the treatment of gammaglobulin that allow normal concentrations of serum IgG.
