Autosomal Recessive Agammaglobulinemia with Juvenile Idiopathic Arthritis: A Case Report

Abstract

The B lymphocyte developmental blocks in agammaglobulinemia leads to peripheral B cells depletion and plasma immunoglobulins reduction. It is a rare but serious disease since it presents recurrent sinopulmonary, skin, central nervous system, bone, and joint infections; the onset of which is reported 6 months of age. There is also a connection between arthritis and immunodeficiency disorders, such as agammaglobulinemia and common variable immunodeficiency (CVID). We reported the case of a 3.5-year-old girl with a 3-month history of swelling of the left knee following mimicking oligoarticular juvenile idiopathic arthritis. After the initiation of immunosuppressive treatment, she developed large tender erythematous lesions on inguinal region bilaterally, developing to ecthyma gangrenosum, which resulted from Pseudomonas. Her mother also reported the recurrent episodes of infections since she was a one-year-old infant. Subsequent to immunological exams and laboratory tests, she was diagnosed with autosomal recessive agammaglobulinemia due to low serum immunoglobulin concentration and the absence of peripheral B cells. Primary immunodeficiency conditions, particularly agammaglobulinemia, and CVID should be considered in children with arthritis and recurrent infections. Moreover, the immunological analysis should be performed before the initiation of any treatment for these children.