Abstract
X-linked agammaglobulinemia (XLA) is one of the most common types of primary immunodeficiency disease in children, and is an antibody deficiency disease which is seen in men.Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene, they typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes.XLA is characterized by recurrent bacterial infections within 2 years, sometimes life-threatening.The prognosis of XLA has been improved by the treatment of gammaglobulin that allow normal concentrations of serum IgG. Key words: X-linked agammaglobulinemia; Bruton tyrosine kinase gene; Mutation
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