Lung involvement in common variable immunodeficiency (CVID): a case series

Abstract

Introduction: CVID fits into the broad spectrum of rare primary immunodeficiencies, with a global incidence of 1: 25,000 to 1: 50,000. About 10-20% of patients have lymphocytic infiltrates and/or sarcoid-like granulomas, with several histological findings, termed granulomatous and lymphocytic interstitial lung disease (GLILD). Organising pneumonia (OP) is a rare pulmonary manifestation. Aims: Here, we present a case series of CVID with different ILD spectra to put in evidence both severity and imaging and histological aspects. Results: Four females and 2 males were included (mean age 42.5±14.2 years; mean age at diagnosis of CVID 38.7±11years). Clinical manifestations included recurrent sinuses and respiratory infections, severe gastrointestinal manifestations and neurological involvement at presentation. ILD and CVID diagnosis was coincident in 4 cases. After lung, the most commonly affected sites were lymph nodes, gastrointestinal tract and skin. Histological diagnosis was obtained by transthoracic lung biopsy in all cases. After multidisciplinary evaluation of clinical, imagiological and histological aspects the final diagnosis was OP (3 cases), GLILD (2 cases) and lymphocytic pneumonia (1 case). All patients were under immunoglobulin replacement. Four patients were under immunosuppressive treatment (mycophenolate mofetil in 2 cases, corticosteroid and hydroxychloroquine, and corticosteroid alone in the others), in 1 due to interstitial involvement and respiratory function impairment, while to other due to extrapulmonary involvement. Discussion: GLILD and OP are relatively unusual CVID complications, still poorly recognized. Additional investigation is needed to better guide therapeutic options.