X-linked agammaglobulinaemia (Q102707): Difference between revisions

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Latest revision as of 19:54, 16 August 2026

X-linked agammaglobulinemia is an X-linked recessive inherited disease marked by recurrent bacterial infections in the airways and GI tract. It also predisposes affected individuals to chronic enterovirus infections. It occurs with a prevalence of approximately 1:200,000. The disease is caused by the deficient production of immunoglobulin as a result of mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterised by impaired maturation of B lymphocytes. Patients are treated with regular venous or subcutaneous injections of immunoglobulin.

Language	Label	Description	Also known as
default for all languages	ID_1594688835
English	X-linked agammaglobulinaemia	X-linked agammaglobulinemia is an X-linked recessive inherited disease marked by recurrent bacterial infections in the airways and GI tract. It also predisposes affected individuals to chronic enterovirus infections. It occurs with a prevalence of approximately 1:200,000. The disease is caused by the deficient production of immunoglobulin as a result of mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterised by impaired maturation of B lymphocytes. Patients are treated with regular venous or subcutaneous injections of immunoglobulin.