Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia

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 expres...

Full description

Bibliographic Details
Main Authors: Yu-Hsin Yeh, Meng-Ying Hsieh, Wen-I Lee, Jing-Long Huang, Li-Chen Chen, Kuo-Wei Yeh, Liang-Shiou Ou, Tsung-Chieh Yao, Chao-Yi Wu, Syh-Jae Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Immunology
Subjects:
X-linked agammaglobulinemia (XLA)
Bruton's tyrosine kinase (BTK)
contiguous gene deletion syndrome (CGS)
TIMM8A/DDP1 gene
deafness-dystonia-optic neuronopathy syndrome (DDON)
Mohr-Tranebjaerg syndrome (MTS)
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.02001/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2020.02001/full

Similar Items