普通变异型免疫缺陷病患者不同类别免疫球蛋白水平特点及临床表型分析

Analysis of the clinical and immunological characteristics in patients with common variable immunodeficiency

目的总结我国大陆地区普通变异型免疫缺陷病（common variable, immunodeficienciency, CVID）患者的临床和免疫学特征，以提高临床医师对该病的认识。方法按照泛美免疫缺陷病组和欧洲免疫缺陷病协会于1999年提出的CVID临床诊断标准，筛选出36例CVID患者。分析其不同类别免疫球蛋白（Ig）的水平和临床表型特征。结果36例CVID患者发病年龄（5．14±3．08）岁，诊断年龄（10．35±5．53）岁，诊断延迟时间（62．30±58．41）个月。36例患者最常见的感染为呼吸道（30例）和消化道（14例）感染，部分患者除感染外还合并其他症状：如淋巴瘤（4例）和自身免疫性疾病（6例）等。36例CVID患者中，大部分患者3种血清Ig（IgG、IgM、IgA）水平同时降低；其中血清IgG水平（1．73±1．41）g／L，IgM水平（0．35±0．36）g／L；且大部分患者血清IgM水平降低和CIM／CD8比值倒置，而淋巴瘤、自身免疫性疾病、溃疡性结肠炎和克罗恩病更常见于以CD8＋T淋巴细胞为主的患者。结论我国大陆地区CVID患者中，大部分患者不能被及时诊断；提高临床医师对CVID的认识是早期诊断的关键。

Objective Through dealing with the complete data of clinical and immunological characteristics in patients with common variable immunodeficiency （CVID）, to increase the recognition of the disease in clinician. Methods Thirty-six patients with CVID were selected according to the clinical diagnostic criteria for CVID proposed by Pan-American Group for Immunodeficiency and European Society for Immunodeficiencies in 1999 and the levels of IgG, IgA, IgM,as well as the characteristics of clinical phenotype were analyzed. Results The mean onset age, the mean diagnosis age and the delay time from onset to diagnosis were （5. 14 ± 3.08 ） years, （ 10. 35 ± 5.53 ） years and （62.30 ±58.41 ） months respectively in the 36 patients. The most frequent types of infection in these patients were respiratory tract （30 cases） and gastrointestinal infection（ 14 cases） , and other accompanied symptoms included lymphoma （4 cases） and autoimmune （6 cases） disorders. Among the 36 cases, most of the patients with decreased levels of serum IgG,IgM and IgA;the mean levels of serum IgG was（ 1.73 ± 1.41 ） g/L and the IgM was（ 0.35±0.36） g/L, moreover,most of the patients with decreased levels of serum IgM. The inversion of CD4/CD8 was common in the patients with CVID, and the lymphoma, autoimmune disorders, ulcerative colitis and Crohn＇s disease could be seen more frequent in the patients with CD8 ＋ T dominant. Conclusions Majority of patients with CVID can not be detected timely. Improved recognition of the disease is the key factor for early diagnosis and close attention to the disease paid by the whole society is crucial for standard treatment.