[Rheumatological manifestations in primary immunodeficiency diseases].

Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Monoarthritis or oligoarthritis is the usual pattern, caused by Mycoplasma, Staphylococcus, Streptococcus, Pneumococcus or Haemophilus species. These bacteria can provoke not only synovial infections, but also aseptic arthritogenic inflammatory responses. Infectious arthritis or osteomyelitis must be diagnosed and treated with antimicrobial therapy at the earliest. Bone lesions are far less common and usually present as infectious complications in humoral PID. Larger bone manifestations occur in hyper-IgE syndrome and spondyloepiphyseal dysplasia. Short stature is the most common in reticular dysgenesis, in autoimmune polyendocrinopathy candidiasis ectodermal dysplasia and in DNA repair disorders. Knowledge of PID syndromes both enhances the diagnostic capabilities of physicians and provides understanding the pathophysiology of bone and joint abnormalities associated with immune dysfunction. In children and occasionally in adults, a combination of bone and/or joint manifestations and hypogammaglobulinemia may be the first sign of PID. When lymphoproliferative disease or infection can not be proved, investigations for PID should be accomplished. Orv Hetil. 2018; 159(23): 918-928.