普通变异型免疫缺陷病合并自身免疫性疾病临床特征

Clinical Features of Common Variable Immunodeficiency Complicated with Autoimmune Disease

目的探讨普通变异型免疫缺陷病（commonvariableimmunodeficiency，CVID）合并自身免疫性疾病（autoimmunedisease，AID）的临床特点及防治。方法回顾性分析1999年4月至2012年10月北京协和医院符合上述诊断标准的住院患者23例，记录患者的临床表现、相关辅助检查、治疗及转归等临床资料。AID由专科医生根据诊断标准进行诊断。根据是否合并AID分为合并AID组及无合并AID组，对2组相关数据进行统计学分析。结果23例CVID患者中，6例合并有AID，约占26．1％。其中男4例，女2例，诊断CVID的中位年龄为26．5（14～32）岁。无合并AID组17例患者，男9例，女8例，诊断CVID的中位年龄为24．0（12—50）岁。6例CVID合并AID患者中免疫性血小板减少性紫癜和自身免疫性溶血性贫血共3例，占13．0％（3／23），其余3例MD分别为恶性贫血并萎缩性胃炎、白癜风及贝赫切特综合征，分别占4．3％（1／23）。其中，3例首发症状为呼吸道感染，2例首发症状为AID表现，1例首发症状为腹泻。所有6例CVID合并AID者血清免疫球蛋白IgG、IgA及IgM均降低。5例患者进行淋巴细胞亚群检查均存在B淋巴细胞均减少，4例患者存在CIM＋T淋巴细胞比例下降和CD4＋T／CD8＋T比例倒置；3例患者的CD8＋T细胞存在异常激活。4例患者接受了静脉输注免疫球蛋白，治疗后症状均明显好转。结论CVID成人发病多见，主要表现为反复呼吸道感染和消化系统受累，易合并AID，其中TTP和AHA常见。AID为CVID预后不良的因素，其治疗仍以静脉注射免疫球蛋白为主，同时应警惕长期应用糖皮质激素和免疫抑制剂加重感染的风险。

Objective To study the clinical characteristics of common variable immunodeficiency （CVID） with autoimmune disease （AID） , and enhance the understanding of it by rheumatologists. Methods The data of patients with CVID associated with autoimmune disease who were admitted to Peking Union Medical College Hospital from April 1999 to October 2012 were analyzed retrospectively, including the clinical characteristics, laboratory results, treatment and prognosis. Results Among 32 CVID patients, 6 cases with AID were collected, in which 4 were men and 2 were woman. The median age was 24 years at the time of diagnosis of AID. The median age was 26.5 from onset to diagnosis was 13.5 years. years at the time of diagnosis of CVID, Six different of AIDs types were and the median time observed ： immunethrombocytopenic purpura （ITP, n = 2）, autoimmune hemolytic anemia （AHA, n = 1 ）, Behcet＇ s disease （ BD, n = 1 ）, Pernicious anemia with atrophic gastritis （ n = 1 ） and Vitiligo （ n =1 ）. The initial symptoms of 3 patients were recurrent cough and expectoration, 2 patients had symptoms correlated with AID, and which of 1 patient had diarrhea. The serum levels of IgG, IgA and IgM of all 6 cases were decreased. All the cases were diagnosed due to the presence of hypoimmunoglobulinemia. The tests for subtypes of lymphocytes in 5 patients showed that B cells decreased evidently in all 5 cases, and CD4 ＋ T cells decreased remarkedly with an inversed ratio of CD4/CD8 in 4 cases. Clinical improvement was demonstrated after treated with intravenous immunoglobulin （IVIG） in 4 cases. Conclusions CVID is characterized by impaired antibody responses and recurrent airway and/or gastrointestinal infection. The association between AID and CVI is not fortuitous. The most common AID is autoimmune cytopenia. Treatment regimens for CVID with AID are not standardized. Prolonged immunosuppressive therapy might increase the risk of infection.