功能获得性基因突变与原发性免疫缺陷病

发布时间：2018-05-23 22:57

本文选题：免疫缺陷 + 基因突变　；参考：《中国实用儿科杂志》2017年07期

【摘要】：以常染色体隐性遗传(AR)和X-连锁隐性遗传(XR)方式起病的原发性免疫缺陷病(PID)多表现为功能丧失性突变(LOF),LOF造成相关免疫基因不表达或表达不足、表达产物功能完全丧失或明显降低进而引发PID。而以常染色体显性遗传(AD)方式起病的PID除可表现为LOF外,还可表现为功能获得性突变(GOF),GOF可造成相关免疫基因功能增强或异常活化,进而引起相关临床表现。目前已发现18种PID由GOF基因突变所致,其临床表型复杂,免疫学异质性明显,常以自身炎症或自身免疫为主要表现,伴或不伴其他经典PID的临床特征如反复感染、过敏、肿瘤等。
[Abstract]:Primary immunodeficiency disease (PIDs) with autosomal recessive inheritance (ARA) and X- linked recessive inheritance (XR) was characterized by loss of function mutation (LOF), which resulted in non-expression or underexpression of related immune genes. The function of the expressed product was completely lost or significantly decreased, which led to PID-induced. In addition to LOF, PID with autosomal dominant inheritance can also cause the enhancement or abnormal activation of related immune genes, and then cause related clinical manifestations. At present, 18 kinds of PID have been found to be caused by GOF gene mutation. Their clinical phenotypes are complex and immunological heterogeneity is obvious. They are often characterized by autoinflammation or autoimmunity, accompanied or not accompanied by other classic PID clinical characteristics such as repeated infection, allergies. A tumor, etc.
【作者单位】：深圳市儿童医院肾脏免疫科;
【基金】：国家卫生和计划生育委员会公益性行业科研专项基金资助项目(201402012) 深圳市科技创新委员会基础研究学科布局项目(JCYJ20160429174400950)
【分类号】：R725.9

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