Background Primary immunodeficiency (PID) can present as rheumatic disease due to improper immune regulation.
Objectives Study objective was to evaluate prevalence of rheumatic diseases in Slovene patients with PID.
Methods Medical records of patients entered in Slovene PID registry were reviewed. Data on rheumatic disease and PID were collected and analysed.
Results 240 patients with 49 different PIDs are registered in Slovene PID registry. At least one rheumatic disease is diagnosed in 12 (5%) patients in Slovene PID registry. Five different rheumatic diseases were diagnosed: juvenile idiopathic arthritis (6 patients), rheumatoid arthritis (2 patients), skin vasculitis (2 patients), systemic lupus erythematosus (1 patient) and Kawasaki disease (1 patient).
Rheumatic disease was the presenting manifestation of PID in 8 patients. Four patients developed rheumatic disease after PID has been diagnosed.
Rheumatic disease was present in 5 out of 19 patients with IgA deficiency, 3 patients with yet undefined PID, 2 out of 12 patients with CVID, 1 out of 3 patients with autoimmune lymphoproliferative syndrome and 1 out of 13 patients with DiGeorge syndrome.
Conclusions Patients with PID do suffer from different rheumatic diseases. Therefore patients with rheumatic disease should be evaluated for possible underlying PID. Rheumatic diseases are most common in Slovene patients with predominantly antibody deficiencies which form the largest group of inherited disorders of immune system. Patients with PID should be screened for signs of autoimmunity when diagnosis of PID is made and during follow up.
Disclosure of Interest None declared