Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

BACKGROUND: Type I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to disturbances in immune function. Three prime repair exonuclease 1 (TREX1) is an important exonuclease and plays an important role in DNA damage repai...

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Detalles Bibliográficos
Autores principales: Zhang, Shiyu, Song, Jiaxing, Yang, Yuyan, Miao, Huilei, Yang, Lu, Liu, Yuehua, Zhang, Xue, Liu, Yaping, Wang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789551/
https://www.ncbi.nlm.nih.gov/pubmed/33407657
http://dx.doi.org/10.1186/s12969-020-00490-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789551/
https://www.ncbi.nlm.nih.gov/pubmed/33407657
http://dx.doi.org/10.1186/s12969-020-00490-1

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