Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency

BackgroundGranulomatous and lymphocytic interstitial lung disease (GLILD) is a life-threatening complication in patients with common variable immunodeficiency (CVID), but the optimal treatment unknown.ObjectiveOur aim was to determine whether rituximab azathioprine or mycophenolate mofetil improves high-resolution computed tomography (HRCT) chest scans and/or pulmonary function test results CVID GLILD.MethodsA retrospective chart review of clinical laboratory data on 39 GLILD who completed immunosuppressive therapy performed. Chest HRCT scans, performed before after conclusion therapy, were blinded, randomized, scored independently by 2 radiologists. Differences between pretreatment posttreatment scan scores, results, lymphocyte subsets analyzed. Whole exome sequencing all patients.ResultsImmunosuppressive improved patients' scores (P < .0001), forced vital capacity = .0017), FEV1 .037), total .013) not their carbon monoxide diffusion .12). Nine relapsed 6 retreatment, 5 these (83%) having .063). Relapse associated an increased number B cells .016) activated CD4 T .016). Four (10%) had pneumonia while undergoing active treatment, (5%) died completion therapy. Eight (21%) damaging mutation gene known predispose (TNFRSF13B [n 3]) cause CVID-like primary (CTLA4 2], KMT2D BIRC4 1]). Immunosuppression .0078) without .0001) mutation.ConclusionsImmunosuppressive radiographic abnormalities GLILD. A majority sustained remissions. Granulomatous unknown. Our patients. Immunosuppressive mutation.