Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.

ABSTRACT:

Background

Bruton's tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells. Affected males have markedly reduced immunoglobulin levels, which render them susceptible to recurrent and severe bacterial infections. Methods: Patients suspected with X-linked agammaglobulinemia were enrolled during the period of 2010-2018. Clinical summary, and immunological profiles of these patients were recorded. Peripheral blood samples were collected for monocyte BTK protein expression detection and BTK genetic analysis. The medical records between January 2020 and June 2023 were reviewed to investigate COVID-19 in XLA.

Results

Twenty-t

SUBMITTER: Chear CT 

PROVIDER: S-EPMC10560089 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature