X-linked agammaglobulinaemia (Q102707): Difference between revisions
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Agamaglobulinemia ligada ao X é uma doença hereditária recessiva ligada ao X marcada por infecções bacterianas recorrentes nas vias aéreas e no trato GI. Também predispõe os indivíduos afetados a infecções crônicas por enterovírus. Ocorre com uma prevalência de aproximadamente 1:200.000. A doença é causada pela produção deficiente de imunoglobulina como resultado de mutações no gene que codifica a tirosina quinase de Bruton (Btk) e é caracterizada por comprometimento da maturação dos linfócitos B. Os pacientes são tratados com injeções endovenosas ou subcutâneas regulares de imunoglobulina. | |||
| description / en | description / en | ||
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. | |||
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 |
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| default for all languages | ID_1594688835 |
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| 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. |
