Clin Chim Acta 2022 Jun 1;531:48-55. Epub 2022 Mar 1.
Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China; Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital, Changsha, Hunan, China. Electronic address:
Background: The defect of Bruton's tyrosine kinase (BTK) gene resulted in X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, immunodeficiency with low B-cell numbers and immunoglobulin. Diagnosis of XLA depends on clinical phenotype and genetic testing.
Methods: Six unrelated Chinese families with high suspicion of XLA were enrolled in this study. Read More