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;
Origin ID : 1594688835;
UMLS CUI : C0221026;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
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.