@article{HAN2024, 
author = {Xu HAN and Qing ZHOU},
title = {Review of autoinflammatory diseases pathogenic genes},
year = {2024},
journal = {Journal of Northwest University (Natural Science Edition)},
volume = {54},
number = {5},
pages = {811-821},
keywords = {systemic autoinflammatory diseases, germline variant, somatic variants, monogenic disease},
url = {https://www.sciopen.com/article/10.16152/j.cnki.xdxbzr.2024-05-004},
doi = {10.16152/j.cnki.xdxbzr.2024-05-004},
abstract = {Autoinflammatory diseases (AIDs) is a group of inflammatory disease caused by excessive activation of innate immune system, with ubiquitous inflammation and involvement of multiple systems and organs. Genetics plays an important role in the pathogenesis of AIDs. So far, there are more than 50 monogenic AIDs causal genes have been described since the discovery of the first autoinflammatory disease. With the progress of immunological and genomic research, the spectrum of AIDs pathogenic genes was expanded with better interpretation of AIDs. With the introduction to AIDs causal genes and clinical phenotypes, we provide a comprehensive review of the pathogenesis of AIDs to better understand this group of disorders.}
}