Musculoskeletal Problems in Children with Inborn Errors of Immunity

Abstract Background Inborn errors of immunity (IEIs) are inherited disorders of the innate or adaptive immune systems, or combinations of both. Several types of IEIs might present with arthropathy that may be related to infections, an autoimmune process or part of immunodeficiency syndromes. This work aimed at assessing the frequency and clinical burden of arthropathy in certain groups of IEIs. Methods This retrospective study included 108 children diagnosed as combined immunodeficiency and antibody deficiencies, and were following up in the Pediatric Allergy, Immunology and Rheumatology Unit, Children’s Hospital, Ain Shams University, in the period from December 2020 to February 2022. Medical records were revised for their immunological profile and articular presentations and possible underlying etiologies beside clinical assessment of survivors. Results In this study, patients with antibody deficiencies represented 60.2% of the studied population. Arthropathy was demonstrated in both categories; antibodies deficiency and combined immunodeficiency, 7% of combined immunodeficiency patients had arthropathy (4.7 % had arthritis and 2.3 had arthralgia), septic arthritis was demonstrated in 2.3 % of patients who had arthritis. In antibody deficiencies, 27.7 % of patients had arthropathy (15.4 % had arthritis and 12.3% had arthralgia), 7.7% of arthritic patients had septic arthritis. Conclusion Arthropathy is a common association/complication in IEIs in Egyptian children, due to infectious and non-infectious etiologies. Our study was limited by its retrospective design and small sample size.