普通变异型免疫缺陷病75例临床分析

Common variant immunodeficiency:a case series and literature review

目的探讨中国人群单中心普通变异型免疫缺陷病(CVID)患者的临床表现、实验室检查、治疗及预后。方法对北京协和医院1983年1月1日至2021年5月1日住院病历系统中经2019年欧洲免疫缺陷学会(ESID)标准复核诊断为CVID的75例患者的临床资料进行回顾分析及随访。结果CVID患者的常见临床表现包括呼吸系统受累(68.0%,51/75)、血液系统受累(66.7%,50/75)、肝脾受累(66.7%,50/75)、胃肠道受累(46.7%,35/75)、自身免疫性疾病(29.3%,22/75)等。免疫球蛋白均明显降低(中位IgG 2.4 g/L,中位IgA 0.1 g/L,中位IgM 0.1 g/L),TB淋巴细胞亚群提示CD4+T细胞减少(中位数471/μl)、CD8+T细胞增加(中位数620/μl)、CD4+/CD8+T比例倒置(中位数0.7),NK细胞及B细胞减少(中位数分别44/μl、115/μl)。住院期间75例患者均接受了IgG替代治疗,辅以抗感染、营养支持治疗后,74例病情有改善。随访了47例出院患者,仅16例出院后坚持规律治疗。结论CVID的临床表现多种多样,可有多系统受累,包括自身免疫性疾病,以IgG替代为基石的治疗有一定疗效。

Objective To analyze the clinical manifestation,laboratory examination,treatment and prognosis of common variable immunodeficiency(CVID)in single center of Chinese population.Methods The clinical data of 75 cases of CVID,diagnosed according to European Society for Immunodeficiency(ESID)criteria and admitted in Peking Union Medical College Hospital from January 1983 to May 2021 were retrospectively analyzed.Results The main clinical manifestations of CVID were respiratory abnormality(68.0%,51/75),blood system abnormality(66.7%,50/75),liver and spleen involvement(66.7%,50/75),gastrointestinal abnormality(46.7%,35/75),autoimmune abnormality(29.3%,22/75).Immunoglobulin decreased significantly(median IgG 2.4 g/L,median IgA 0.1 g/L,median IgM 0.1 g/L).Lymphocyte subsets indicated that CD4+T cells decreased(median 471/μl),CD8+T cells increased(median 620/μl),CD4+/CD8+T calls proportion inverted(median 0.7),and NK cells and B cells decreased(median 44/μl,115/μl,respectively).During hospitalization,their conditions were improved after IgG replacement therapy,supplemented with anti-infection and nutritional support therapy.Forty seven discharged patients were followed up,and only 16 patients insisted on regular IgG replacement therapy after discharge.Conclusions The clinical manifestations of CVID are varied,and multiple systems may be involved,including autoimmune abnormalities.The treatment based on IgG replacement has a certain curative effect.