Maladie granulomateuse au cours du déficit immunitaire commun variable

Abstract

Purpose Common variable immunodeficiency (CVID), defined by defective production of immunoglobulins, is the most common primary immunodeficiency in adulthood requiring a medical follow-up. Repeated bacterial infections and/or autoimmune manifestations and/or benign lymphoproliferation (including follicular hyperplasia and/or granulomatous disease) are the hallmark of the disease. This review aims at describing recent advances in the understanding and treatment of granulomatous disease in CVID. Current knowledge and key points Clinical features of granulomatous disease in CVID can mimic sarcoidosis, remarkable by the low levels of circulating immunoglobulins. Granulomas may be found in several organs in a single patient, and the main features are pulmonary, lymphoid, cutaneous, hepatic or splenic. The features of CVID is remarkable by the high frequency of autoimmune diseases complicating the immunodeficiency. Some immunological abnormalities have been described in such patients, including lymphopenia, decreased T-cells proliferations to mitogens and antigens. Rare polymorphisms in the gene encoding TNFα (Tumor Necrosis Factor) have been identified in CVID patients with granulomatous disease. Future prospects and projects The evolution of the disease is severe, particularly when the lung is involved. Treatment consists in immunoglobulins substitution, immunosuppressive agents (corticosteroids, cyclophosphamide) and anti-TNFα antibodies. These treatments are difficult to manage in such immunocompromised patients.