普通变异型免疫缺陷病并发自身免疫相关疾病的临床特征与转归

Clinical characteristics and outcomes of common variable immunodeficiency complicated with autoimmune disorders

目的探讨普通变异型免疫缺陷病(common variable immunodeficiency,CVID)并发自身免疫相关疾病(autoimmune disorder,AD)的临床特征与疾病转归。方法回顾性分析1999年4月至2020年10月于北京协和医院住院的CVID患者94例,其中符合AD诊断的患者(CVID-AD)22例,比较其与72例未并发AD的CVID患者(CVID-nAD)在临床表现、免疫学及转归的差异。结果CVID-AD组中,男12例,女10例。诊断CVID的中位年龄为25.5(4~51)岁,诊断AD的中位年龄为25(4~51)岁,AD多发生于CVID之前,81.8%患者CVID和AD同期诊断。AD类型多样,包括反应性关节炎3例(13.6%),炎症性肠病3例(13.6%),幼年型慢性关节炎、免疫性血小板减少性紫癜和自身免疫性溶血性贫血2例(9.1%),以及系统性红斑狼疮、成人Still病、复发性多软骨炎、肠道血管炎、贝赫切特病、重症肌无力、白癜风、银屑病关节炎、自身炎症性疾病、未分化结缔组织病各1例(4.5%)。CVID-AD组支气管扩张、肝损伤、皮肤感染、肝脾及淋巴结肿大等临床表现患者比例显著高于CVID-nAD组(P均<0.02)。结论CVID患者并发AD并非罕见,且可出现多种类型的AD表现,从而增加临床治疗难度和预后的不确定性,早期诊断、规范静脉用人免疫球蛋白治疗,有助于改善患者预后,激素和/或免疫抑制剂远期获益未明,应慎重使用于伴有内脏受累的AD患者。

Objective To investigate the clinical characteristics and long-term outcomes of the common variable immunodeficiency(CVID)complicated with autoimmune disorders(AD).MethodsNinety-four patients with CVID who were admitted to Peking Union Medical College Hospital during April 1999 and October 2020 were retrieved and a retrospective analysis was performed.Comparisons on clinical features,immunological changes,and outcomes between 22 patients complicated with AD(CVID-AD)and 72 patients without AD(CVID-nAD)were executed to identify the differences and connections between the two groups.ResultsAmong CVID-AD patients,12 were male and 10 were female.The median age for diagnosing CVID was 25.5(4-51)years,and the median age at the diagnosis of AD was 25(4-51)years,with 81.8%of patients diagnosed of CVID and AD at the same time.The involved AD includeed reactive arthritis(3,13.6%),inflammatory bowel disease(3,13.6%),juvenile chronic arthritis,immune thrombocytopenic purpura and autoimmune hemolytic anemia 2 patients(9.1%),and systemic lupus erythematosus,adult onset Still's disease,relapsing polychondritis,intestinal vasculitis,Behcet's disease,myasthenia gravis,vitiligo,psoriatic arthritis,autoimmune inflammatory disease and undifferentiated connective tissue disease with 1 patient(4.5%)for each.The proportions of patients with bronchiectasis,liver malfunction,skin infection,hepatosplenomegaly,and lymphadenectasis were significantly higher in CVID-AD group than in CVID-nAD group(P<0.02).Conclusions AD is not a rare complication in patients with CVID and various types of AD can occur.The presence of AD increases the challenge in treatment and uncertainty in prognosis.Still,early diagnosis and standardized intravenous immunoglobul in treatment can help improve the prognosis of patients.The long-term benefit of glucocorticoids/immunosuppressants is uncertain,and should be cautiously used in those with visceral injuries from AD.