Article
Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.
Frontiers in immunology - 1 Jan 2020
Yeh Yu-Hsin, Hsieh Meng-Ying, Lee Wen-I, Huang Jing-Long, Chen Li-Chen, Yeh Kuo-Wei, Ou Liang-Shiou, Yao Tsung-Chieh, Wu Chao-Yi, Lin Syh-Jae
Abstract excerpt
Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia. The aim of this study was to analyze the clinical features, genetic defects, and/or BTK expression in patients suspected of having XLA who were referred from the Taiwan Foundation of Rare Disorders (TFRD). Methods:...
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