A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

Mutations in the IKBKB gene cause severe immunodeficiency, characterized clinically by persistent respiratory or gastrointestinal infections. Targeted gene panel sequencing revealed a novel homozygous missense mutation in the IKBKB gene of a patient with immune dysregulation and combined T and B cel...

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Detalles Bibliográficos
Autores principales: Qin, Tao, Jia, Yanjun, Liu, Yuhang, Dai, Rongxin, Zhou, Lina, Okada, Satoshi, Tsumura, Miyuki, Ohnishi, Hidenori, Kato, Zenichiro, Kanegane, Hirokazu, Sun, Xiulian, Zhao, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7917045/
https://www.ncbi.nlm.nih.gov/pubmed/33658989
http://dx.doi.org/10.3389/fimmu.2020.517544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7917045/
https://www.ncbi.nlm.nih.gov/pubmed/33658989
http://dx.doi.org/10.3389/fimmu.2020.517544

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