关键词: 自身炎症性疾病, 单基因遗传病, 干扰素病, 基因诊断

Abstract:

The term autoinflammatory diseases（AIDs） was proposed in 1999 to describe a group of disorders of the innate immune system characterized by recurrent episodes of inflammation without a known origin，which are frequently caused by genetic mutations in genes encoding proteins involved in the pathways of the inflammation，and follow Mendelian inheritance. At present more than 20 monogenic AIDs have been reported，of which clinical features include recurrent fever，rashes，serositis，myalgia，arthritis，meningitis，uveitis，lymphadenopathy and splenomegaly. Inflammatory markers such as leucocyte count，erythrocyte sedimentation rate（ESR） and C-reactive protein（CRP） are almost elevated in all AIDs patients. AIDs should be suspected and genetic testing should be performed in specialized laboratories when a child is presented with the above clinical manifestation that cannot be explained by other reasons（such as infection or malignant tumor）. It is noteworthy that mutation in a gene could cause different clinical phenotypes，on the other hand，a clinical phenotype could be caused by several different genes. The interpretation of gene results should be based on genetic knowledge，combined closely with clinical phenotypes，especially for some mutations with high prevalence in the population.

Key words: autoinflammatory diseases（AIDs）, monogenetic disorders, interferonopathies, genetic diagnosis