Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (γ(C), CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T(−)B(+)NK(−) phenotype as a result of dysfunctional γ(C)-JAK3-STAT5 signaling. Lately, hypomorphic mutations o...

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Detalles Bibliográficos
Autores principales: Hou, Yujuan, Gratz, Hans Peter, Ureña-Bailén, Guillermo, Gratz, Paul G., Schilbach-Stückle, Karin, Renno, Tina, Güngör, Derya, Mader, Daniel A., Malenke, Elke, Antony, Justin S., Handgretinger, Rupert, Mezger, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774591/
https://www.ncbi.nlm.nih.gov/pubmed/35052377
http://dx.doi.org/10.3390/genes13010035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774591/
https://www.ncbi.nlm.nih.gov/pubmed/35052377
http://dx.doi.org/10.3390/genes13010035

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