Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain

INTRODUCTION: ZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates a TCR signaling cascade upon antigen stimulation. Mutations in the ZAP70 gene cause a combined immunodeficiency characterized by low or absent CD8+ T cells and nonfunctional CD4+ T cells. Most deleterio...

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Detalles Bibliográficos
Autores principales: Mongellaz, Cédric, Vicente, Rita, Noroski, Lenora M., Noraz, Nelly, Courgnaud, Valérie, Chinen, Javier, Faria, Emilia, Zimmermann, Valérie S., Taylor, Naomi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258307/
https://www.ncbi.nlm.nih.gov/pubmed/37313400
http://dx.doi.org/10.3389/fimmu.2023.1155883

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