Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese patients with X-Linked Agamma

• 作 者: Xia-Fang Chen Tong-Xin Chen
• 机 构: Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine
• 出 处: 中国免疫学会第九届全国免疫学学术大会
• 发表日期: 2014年8期

Rationale: Rationale: X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes.Mutations in the gene encoding for Brutons tyrosine kinase (BTK) are responsible for most of the agammaglobulinemia.