普通变异型免疫缺陷病临床表现及基因研究进展  

Progress in the study on clinical manifestation and molecular biology of common variable immunodeficiency diseases

作　　者：刘文文[1] 白丽[1] 

机构地区：[1]云南省大理学院基础医学院,大理671000

出　　处：《国际免疫学杂志》2013年第1期1-4,共4页International Journal of Immunology

基　　金：国家自然科学基金资助项目（30860262）

摘　　要：普通变异型免疫缺陷病（CVID）为临床最常见的原发性免疫缺陷病。普通变异型免疫缺陷病临床表现具有多样性、无特异性的特点，临床表现中最常见的为反复呼吸道、消化道感染，而慢性肺部疾病、肉芽肿、自身免疫性疾病、脾脏肿大、复发性多软骨炎、淋巴增殖性疾病及恶性肿瘤等也可见于CVID患者中。CVID的发生可能与编码TACI、ICOS、CD19、BAFF．R、APRIL、CD81、CD20、CD21、CD28的基因突变有关。研究CVID的临床表现及CVID相关性基因对指导临床诊断、治疗具有重要的意义。Commgn variable immunodeficiency is the most common primary immune defect. Clinical manifestations of common variable immunodeficiency diseases, are diverse with no specific characteristics. Recurrent respiratory tract and gastrointestinal infections are the most common clinical manifestations. Chronic lung diseases, granulomatous, autoimmune diseases, splenomegaly, recurrent polychondritis lymphoproliferative diseases, malignancy are also seen in CVID patients. The pathogenesis of CVID may be associated with genetic mutations of the genes, coding TACI, ICOS, CD19, BAFFR, APRIL, CDSl, CD20, CD21, CD28 gene mutation. Studies on the clinical characteristics of CVID and CVID-related genes have important significance in guiding the clinical diagnosis and treatment.

关 键 词：普通变异型免疫缺陷病 临床表现 基因 

分 类 号：R593[医药卫生—内科学]