Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature.
BACKGROUND
Granulomatous disease resembling sarcoidosis is a well-described condition associated with common variable immunodeficiency (CVID). Its treatment remains problematic, and new therapeutic options are needed.


OBJECTIVE
To report the efficacy of treatment with infliximab, a chimeric anti-tumor necrosis factor alpha monoclonal antibody, in a patient with granulomatous CVID and to review the literature on the treatment of patients with granulomatous CVID.


METHODS
A 22-year-old white man with CVID developed acute multiorgan failure, with granulomatous inflammation on lung and liver biopsy specimens. He was initially treated with antibiotics, intravenous immunoglobulin, and corticosteroids for 5 weeks without improvement. High-dose infliximab was then infused weekly for 6 weeks and then monthly for 9 months. The response to infliximab was determined by changes on clinical examination, imaging studies, and histologic studies.


RESULTS
The patient's condition dramatically improved after 1 dose of infliximab infusion, with decreasing hepatosplenomegaly, ventilatory support requirements, and pulmonary infiltrates. Ventilatory support was successfully discontinued within 3 weeks. The corticosteroid dose was tapered without reactivation of the disease. After 9 months of therapy, follow-up imaging studies showed resolution of pulmonary infiltrates, no hepatosplenomegaly, and no portal hypertension, and a percutaneous liver biopsy revealed no granulomas; then, infliximab use was discontinued. The patient remains free of granulomatous disease after 18 months of follow-up.


CONCLUSIONS
To our knowledge, this is the first report of severe visceral granulomatous CVID successfully treated with infliximab. Infliximab may be an effective therapy for granulomas in CVID. Further studies of infliximab and other tumor necrosis factor a antagonist therapies in granulomatous CVID are warranted.
Thatayatikom
Akaluck
A
Division of Immunology/Rheumatology, Department of Pediatrics, St Louis Children's Hospital and Washington University School of Medicine, St Louis, Missouri 63110, USA.
Thatayatikom
Sthorn
S
White
Andrew J
AJ
D000328:Adult; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000503:physiopathology*; D006099:Granuloma / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D000069285:Infliximab; D008107:Liver Diseases / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D008171:Lung Diseases / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D008297:Male
D000911:Antibodies, Monoclonal; D018501:Antirheumatic Agents; D000069285:Infliximab