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Encyclopedia of Immunology || Bruton's Agammaglobulinemia

✍ Scribed by Conley, Mary Ellen

Book ID
118145952
Publisher
Elsevier
Year
1998
Weight
82 KB
Edition
2
Category
Article
ISBN
0122267656

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Bruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients fro

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X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the B-cell compartment caused by a defective gene encoding for the tyrosine kinase (btk) essential for B cell differentiation. Affected males undergo recurrent pyogenic infections and deficient immunoglobulin production. Peripheral b