Bruton's X-linked agammaglobulinemia presenting as chronic monoarticular arthritis

Abstract

Bruton's X-Linked Agammaglobulinemia (XLA) is an X linked recessive primary immune deficiency disorder characterized by recurrent bacterial infections and failure to generate immunoglobulins of all isotypes due to the absence or profoundly decreased mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. The coexistence of chronic monoarticular arthritis in a patient with Bruton's XLA has been described an uncommon presentation. We describe a 5 year-old boy with XLA and chronic monoarticular arthritis.