Caseating granulomatous disease in common variable immunodeficiency treated with infliximab

Abstract

RATIONALE: Non-caseating granulomas have been reported to occur in 5.4%-10% of common variable immunodeficiency (CVID) patients. Caseating granulomas, on the other hand, have been only rarely described. We report a patient with caseating granulomas successfully treated with infliximab. CASE REPORT: A 31-year-old white male, with CVID since age 4 (complicated by splenomegaly and thrombocytopenia, and maintained on IVIG infusions), presented with fever and massive lymphadenopathy in axillae, groins, chest, abdomen and pelvis. Several biopsies showed caseating granulomas. No infectious organisms, including atypical mycobacteria, were identified despite culture of several tissues including bone marrow. Steroids and increasing IVIG infusions resulted in a significant but incomplete response. Six months later, he developed multiple splenic abscesses measuring up to 4 cm in diameter. He also developed an enlarging, thick, oval skin plaque over his back, which, by biopsy, showed a focal granulomatous response. A trial of Rituximab resulted in a transient response and a 4 cm decrease in the size of the spleen. Fever, lymphadenopathy and the skin plaque continued to worsen. He was started on infliximab infusions. Following the third infusion, the plaque was almost completely healed. The lymphadenopathy and splenic abscesses, by CT, were decreased by at least 50%. CONCLUSIONS: TNF-α is believed to be essential for the maintenance of granulomas. Blockade of TNF, especially by infliximab, has resulted in reactivation of granulomatous infections. We have utilized the ability of infliximab to reverse granuloma formation to treat granulomatous disease associated with CVID.