COMMON VARIABLE IMMUNODEFICIENCY DISEASE FROM THE PERSPECTIVE OF RHEUMATOLOGY

BackgroundCommon variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired B cell differentiation and immunoglobulin production. In addition to increased susceptibility to infection, patients also have an increased tendency to autoimmune disease. Since rheumatological findings usually start earlier than other autoimmunities, it is very important to increase the awareness of rheumatologists about this disease, for accurate diagnosis and to prevent delay in treatment.ObjectivesTo increase the awareness of rheumatologists about the main symptoms and findings of CVID.MethodsAdult patients referred to the rheumatology department since January 2015 were included in the study. Demographic and clinical characteristics (infections, pulmonary and extrapulmonary granulomatous involvement, autoimmune manifestations), laboratory and imaging findings and treatments of the patients were analyzed.ResultsTen adult patients with CVID were included in the study. The gender distribution of the patients was similar and the median age was 38±10.0 years. The mean duration of diagnosis was 123.5±89.3 months. At least one autoimmune manifestation was observed in 80% of the patients. In the follow-up period, 40% of the patients developed arthritis. Involvement of lower extremity joints such as knee and ankle was more prominent. While all patients were given 0.8 g/kg/3 weeks of intravenous immunoglobulin, 80% required immunosuppressive therapy for autoimmune manifestations. The demographic and clinical characteristics of the patients are summarized in Table 1.Table 1.Autoimmune manifestations of common variable immunodeficiency patientsCase 1Case 2Case 3Case 4Case 5Case 6Case 7Case 8Case 9Case 10Age/Sex36/F43/F40/M25/M23/M36/M41/M57/F35/F48/FSymptom duration (years)121111417121113127Diagnosis duration (years)61183171091112Sinopulmonary infection++++++++++GI infection-+-+-++---Other infections++-++-++-+Pulmonary Involvementlymphocytic ILDnodule*bronchiectasis--bronchiectasisbronchiectasiscavitationnodulenodule-Extrapulmonary Granulomabrain parenchyma, bone marrow, liver, spleen, skinliver, spleen-renal°, liver-**bone-ᵜlymph node--Autoimmune manifestations-monoarthritis,chronic ileitisoligoarthritis,atrophic gastritis,chronic ileitisalopecia, thyroiditis,bilateral anterior uveitis-oligoarthritis,autoimmune neutropenia,chronic ileitis,kounis syndromeoligoarthritis,autoimmune neutropeniaoligoarthritis, thyroiditis,sicca syndrome,recurrent scleritiscolitis-Cirrhosis of the liver++---+----Lymphadenopathy++++-+++++Splenomegaly++++-++-+-Immunosuppressive TreatmentSteroid, AZA, CSA, AdalimumabSteroidSteroid, SSZSteroid, MMF, CYC-Steroid, SSZ, MTX, LEF, CSASteroidSteroid, MTX, AZA, CSASteroid, AZA-Abbreviations: AZA-azathioprine, CSA-cyclosporine, CYC-cyclophosphamide, F-female, GI-gastrointestinal, ILD-interstitial lung disease, LEF-leflunomide, M-male, MTX-methotrexate, SSZ-sulfasalazine*right lower lobectomy, ** right foot 5th toe enucleation, ᵜ mediastinoscopic lymph node biopsy ° interstitial granulomatous nephritisConclusionAutoimmune diseases can be seen in patients with CVID, and sometimes this may be the first presentation of CVID. Heterogeneous clinical findings of the disease may lead to delay in diagnosis. Clinicians should be more careful about the different manifestations of CVID to avoid delay in diagnosis.Disclosure of InterestsNone declared