Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency

Mutations of the Regulatory Factor X5 (RFX5) have been associated with the autosomal recessive major histocompatibility class II (MHC-II) deficiency, which is a severe immunodeficiency characterized by constitutive and interferon-gamma induced MHC II expression disorder and leads to the absence of c...

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Detalles Bibliográficos
Autores principales: Chen, Shan, Xu, Yuqing, Qian, Yeqing, Li, Zhaohui, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585253/
https://www.ncbi.nlm.nih.gov/pubmed/36276949
http://dx.doi.org/10.3389/fgene.2022.978688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585253/
https://www.ncbi.nlm.nih.gov/pubmed/36276949
http://dx.doi.org/10.3389/fgene.2022.978688

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