A case of Bruton’s disease presenting with recurrent pneumonia
نویسندگان
چکیده
X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been shown to be caused by mutations in the gene encoding Bruton tyrosine kinase. Although bacterial infections typically begins 6 9 months after birth when maternal IgG is reduced below the protective level, the diagnosis is established before 5 years of age. Here we report a case with Bruton’s disease and recurrent pneumonia that is typical of the late diagnosed disease. This report suggests the importance of evaluating patients with recurrent infections for immunodeficiency diseases.
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A Case of Bruton’s Disease with Normal Immunoglobulin G Level
X-linked agamaglobulinemia (XLA) or Bruton’s disease is a genetic disease resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene. This mutation leads to B cell arrest during differentiation (1). This disease was first described by Ogden Bruton in 1952 (2). Approximately 85% of the affected subjects are male (3). This disorder is inherited as an X-linked recessive trait. Carrier fe...
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