Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations

• Main Authors: Shanshan Gao (Author), Shuang Hu (Author), Huikun Duan (Author), Li Wang (Author), Xiangdong Kong (Author)
• 格式: 圖書
• 出版: BMC, 2020-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. However, the mutations reported to date do not fully explain the diso...