Osteoarticular Manifestations in Primary Immunodeficiency Disorders: A Case Series of Three Patients

Primary immunodeficiency disorders (PIDs) comprise a heterogeneous group of inherited disorders characterized by qualitative and/or quantitative defects affecting one or more components of the immune system. In addition to recurrent infections, musculoskeletal manifestations, particularly arthritis, may occur and occasionally represent the initial presentation of these disorders. Osteoarticular involvement has been reported predominantly in patients with humoral immunodeficiencies, including X-linked agammaglobulinemia, common variable immunodeficiency (CVID), hyper-IgM syndrome, and selective IgA deficiency. We report a case series of three patients with primary immunodeficiency disorders who developed osteoarticular manifestations during follow-up. The first patient, diagnosed with X-linked agammaglobulinemia, presented with aseptic knee arthritis. The second patient, with common variable immunodeficiency, developed probable bilateral infectious arthritis of the knees. The third patient, diagnosed with late-onset combined immunodeficiency (LOCID), presented with acute inflammatory arthralgia involving both knees and ankles, without clinical or ultrasonographic evidence of arthritis. All patients received intravenous immunoglobulin replacement therapy combined with appropriate medical treatment, resulting in favorable clinical outcomes without permanent joint sequelae. These cases highlight the broad spectrum of osteoarticular manifestations associated with primary immunodeficiency disorders and emphasize the importance of early diagnosis and prompt management to prevent irreversible joint damage.