" /> X-linked agammaglobulinaemia - CISMeF





Preferred Label : X-linked agammaglobulinaemia;

ICD-11 definition : X-linked agammaglobulinemia is 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 characterized by impaired maturation of B lymphocytes. Patients are treated with regular venous or subcutaneous injections of immunoglobulin.;

ICD-11 inclusion : Bruton x-linked agammaglobulinaemia; Bruton hypogammaglobulinaemia; BTK - [Bruton tyrosine kinase] deficiency; Bruton type agammaglobulinaemia; Bruton agammaglobulinaemia;

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X-linked agammaglobulinemia is 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 characterized by impaired maturation of B lymphocytes. Patients are treated with regular venous or subcutaneous injections of immunoglobulin.

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27/05/2024


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