成人一般變異性免疫缺乏症病人之自體免疫表現 －－ 南台灣某教學醫院的病歷回溯性調查

A retrospective investigation on autoimmune manifestations of common variable immunodeficiency in adult patients from a tertiary hospital in southern Taiwan

目的：成人一般變異性免疫缺乏症很少在本國被報告出來。吾人調查南台灣某教學醫院此類病患的自體免疫表現。方法：對國立成功大學醫學院附設醫院於民國九十年至一百年間被診斷為一般變異性免疫缺乏症十八歲以上之成人進行病歷回溯性調查，吾人仔細分析這些病患的基本特徵、臨床表現、實驗室資料、放射影像和微生物檢查。結果：總共找出五女一男計六位病患，平均疾病開始年齡為 22.3 ± 19.0歲及診斷年齡為 27.1 ± 17.7歲，平均診斷延遲時間為 4.8 ± 2.9年。這些患者中四位具有臨床上自體免疫表現，分別是關節炎（類風濕性關節炎與幼年性關節炎）二位、病理切片證實腸炎二位與血小板減少一位。給予靜脈注射免疫球蛋白治療後二位病患之關節炎均有顯著改善。所有病患皆有具外殼的病原細菌之感染併發症，且一半患者產生支氣管擴張。目前已有二位病患死亡，其中一位死因為廣泛性感染。結論：自體免疫表現常見於在南台灣一般變異性免疫缺乏症的病患，積極靜脈注射免疫球蛋白治療可明顯改善這類病患臨床上自體免疫造成之關節炎。

Objective: There are few reports of adult common variable immunodeficiency (CVID) in Taiwan, and the autoimmune manifestations in such patients were investigated. Methods: Patients with CVID and aged over 18 were included based on a review of their medical records at National Cheng Kung University Hospital from 2001 to 2011. The demographic characteristics, clinical presentations, laboratory data, radiological images and microbiological examinations of the patients were analyzed. Results: Six patients, five females and one male, were identified. Average ages at disease onset and diagnosis were 22.3 ± 19.0 and 27.1 ± 17.7 years, respectively, with an average delay in diagnosis of 4.8 ± 2.9 years. There were 4 patients with autoimmune manifestations including arthritis (juvenile idiopathic arthritis and rheumatoid arthritis) in two, biopsy-proven colitis in two and thrombocytopenia in one. Administration of intravenous immunoglobulin (IVIg) significantly ameliorated autoimmune-related arthritis in these patients. Infection episodes with encapsulated bacteria were documented in all cases, and half of these patients had bronchietasis. Mortality occurred in two cases, with one due to infection during clinical follow-up. Conclusion: Autoimmune manifestations are frequently observed in adult CVID patients from southern Taiwan, and intensive IVIg treatment can improve the autoimmune-related arthritis in such patients.