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Abstract |
A Novel Deletion Mutation and Structural Abnormality in the Bruton’s Tyrosine Kinase Gene Identified in a Chinese Patient with X-linked Agammaglobulinemia |
Background: X-linked agammaglobulinemia (XLA) is a heritable primary immune deficiency disorder caused by mutation of Bruton’s tyrosine kinase (BTK) gene. The main clinical characteristics of XLA are recurrent respiratory tract infections and profoundly low serum immunoglobulin levels and B cells. |