Abstract
Osteogenesis imperfecta (OI), also called brittle bone disease, is a genetic osteodysplasia characterized by a defect in type 1 collagen. Often diagnosed in infancy or early childhood, young patients are affected by frequent fractures. Osteogenesis imperfecta was first named almost 200 yr ago, yet there are still no FDA-approved treatments for OI, and existing treatments target only the skeletal defects of the disease. In this review, we briefly examine current treatments and ongoing clinical trials. Then, by analyzing OI with an osteoimmunological perspective, we have compiled evidence that OI has an autoimmune component. This autoimmune component of OI remains unconsidered, even though an immunology-based therapy has shown promise in treating OI. Acknowledging an autoimmune component of OI is critical to understanding its mechanisms and allowing for the development of more efficacious treatments and novel immunotherapies. Considering the existing literature and the growing impact of immunotherapeutic therapies in cancer and other autoimmune diseases, we believe it may be time to rethink the immune aspects of this genetic disorder and develop novel immunomodulating strategies to improve the quality of life for OI patients.