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Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain

The interleukin-7 receptor (IL-7R) is expressed on lymphoid cells and plays an important role in the development, homeostasis, survival, and proliferation of T cells. Bi-allelic mutations in the IL-7Rα chain abolish T cell development and function resulting in severe combined immunodeficiency diseas...

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Detalles Bibliográficos
Autores principales: Mansour, Rana, Bsat, Yasmin El, Fadel, Anthony, El-Orfali, Youmna, Noun, Dolly, Tarek, Nidale, Kabbara, Nabil, Abboud, Miguel, Massaad, Michel J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996178/
https://www.ncbi.nlm.nih.gov/pubmed/35418989
http://dx.doi.org/10.3389/fimmu.2022.867837