X-linked agammaglobulinemia

An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B ly

An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

Signs and symptoms

• Decreased circulating IgE concentration
• Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine
• Decreased circulating IgM concentration
• Agammaglobulinemia
• Bronchiolitis obliterans
• Wheezing
• Decreased total B cell count
• Recurrent lower respiratory tract infections
• Sepsis
• Recurrent pneumonia

Also known as: BTK deficiency; Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton disease; Bruton's Sex-Linked Agammaglobulinemia; Bruton's agammaglobulinaemia