Thatayatikom Akaluck, Thatayatikom Sthorn, White Andrew J
Division of Immunology/Rheumatology, Department of Pediatrics, St Louis Children's Hospital and Washington University School of Medicine, St Louis, Missouri 63110, USA.
Ann Allergy Asthma Immunol. 2005 Sep;95(3):293-300. doi: 10.1016/S1081-1206(10)61228-8.
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.
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.
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.
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.
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.
类似结节病的肉芽肿性疾病是一种与常见可变免疫缺陷（CVID）相关的已被充分描述的病症。其治疗仍然存在问题，需要新的治疗选择。
报告英夫利昔单抗（一种嵌合抗肿瘤坏死因子α单克隆抗体）治疗肉芽肿性CVID患者的疗效，并回顾关于肉芽肿性CVID患者治疗的文献。
一名22岁患有CVID的白人男性出现急性多器官功能衰竭，肺和肝活检标本有肉芽肿性炎症。他最初接受抗生素、静脉注射免疫球蛋白和皮质类固醇治疗5周，病情无改善。随后每周静脉注射高剂量英夫利昔单抗，共6周，之后每月注射一次，持续9个月。通过临床检查、影像学研究和组织学研究的变化来确定对英夫利昔单抗的反应。
患者在输注1剂英夫利昔单抗后病情显著改善，肝脾肿大减轻，通气支持需求减少，肺部浸润减少。3周内成功停用通气支持。皮质类固醇剂量逐渐减少，疾病未复发。治疗9个月后，随访影像学研究显示肺部浸润消退，无肝脾肿大，无门静脉高压，经皮肝活检未发现肉芽肿；然后停用英夫利昔单抗。随访18个月后，患者无肉芽肿性疾病。
据我们所知，这是首例用英夫利昔单抗成功治疗严重内脏肉芽肿性CVID的报告。英夫利昔单抗可能是治疗CVID中肉芽肿的有效疗法。有必要进一步研究英夫利昔单抗和其他肿瘤坏死因子α拮抗剂疗法在肉芽肿性CVID中的应用。
