OP0004\u2005AUTOIMMUNE AND INFLAMMATORY MANIFESTATIONS IN COMMON VARIABLE IMMUNODEFICIENCY DISORDERS

Abstract

Common variable immunodeficiency (CVID) disorders are the second most frequent immunodeficiency worldwide and autoimmune diseases (AD) are present in 20% of such patients, cytopenia being the most frequent manifestation [1]. Defects in central and peripheral tolerance, activation/proliferation of B cells, and hypogammaglobulinemia are key features of the disease, along with a reduction in CD4+T cells, abnormalities in Treg and defective secretion of regulatory cytokines, that could perpetuate autoimmune - autoinflammatory phenomena.To describe immune and inflammatory disorders in our CVID cohort.Retrospective analysis of 33 patients who fulfill the European Society for Immunodeficiencies (ESID) Registry – Work criteria for CVID diagnosis [2] treated in the immunodeficiency unit of our tertiary university hospital. After getting an informed consent form, medical records were revised to obtain clinical, analytical and immunological data.Of the 33 CVID patients analysed, 11 had some autoimmune/inflammatory manifestation. Seven patients presented autoimmune thrombocytopenia (AIT), and one of them also had non-severe neutropenia. Two patients also had seronegative spondyloarthropathy, one patient had cutaneous psoriasis, and two patients had alopecia. There were no cases of type 1 diabetes, vitiligo or thyroid disorders. Interestingly, four patients had lung involvement, two of them with granulomatous-lymphocytic interstitial lung disease (GLILD), one with organising pneumonia and one with usual interstitial pneumonia. Five of the eleven patients required immunosuppressive treatment, mostly with steroids. One case of AIT required concomitant treatment with azathioprine and the patient with psoriasis was treated with methotrexate. In six patients, autoimmune disorder was the first manifestation.33% of the CVID patients had autoimmune or inflammatory manifestations in our cohort; six patients had one immune/inflammatory phenomena, four had two different disorders and one patient presented with three different ones. The most frequent manifestation was AIT, as seen in previous reports. In six cases, the autoimmune-inflammatory manifestation was the first symptom attributable to CVID. In conclusion, AD are common in CVID patients, so clinicians must be aware of possible immunodeficiencies in this type of patients.[1]Amaya-Uribe L, Rojas M, Azizi G, Anaya JM, Gershwin ME. Primary immunodeficiency and autoimmunity: A comprehensive review. J Autoimmun. 2019 May;99:52-72.[2]ESID Registry – Working Definitions for Clinical Diagnosis of PID, January 22, 2019.None declared