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. DOI: http://dx.doi.org/10.3126/jnps.v32i3.6183 J. Nepal Paediatr. SocVol.32(3) 2012 245-249
Highlights
The adaptive immune response consists of humoral immunity mediated by B lymphocytes and cellular immunity maintained by T lymphocytes
Bruton’s X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene at Xq21.3, resulting in defective B cell differentiation and a decrease in all serum immunoglobulins[2]
We describe a 5 year old boy with Bruton’s X-linked agammaglobulinemia presenting with chronic monoarticular arthritis
Summary
The adaptive immune response consists of humoral immunity mediated by B lymphocytes and cellular immunity maintained by T lymphocytes. A five year old boy presented with a history of pain and swelling of right knee joint for past one year, which had not improved with multiple doses of intravenous antimicrobials and a nine month course of anti-tubercular drugs. He had a history of recurrent pneumonia since six months of age which required hospitalization. Bruton’s X-Linked Agammaglobulinemia(XLA) Usually by 9–18 months Usually +ve X-linked recessive Absent (Non Palpable) Absent / Atrophic tonsils Normal Markedly decreased/absent Normal Decreased Markedly decreased Btk gene Recurrent pyogenic infections Autoimmunity Malignancy IV Immunoglobulin (IVIG). 1-2 year Variable Variable Non Palpable Small tonsils Decreased Normal Normal Normal/Elevated Markedly Decreased CD 40 Ligand Recurrent Pyogenic Infections Autoimmunity Malignancy IVIG, G-CSF, Stem cell Transplant
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