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

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

IntroductionZAP-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 deleterious...

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Bibliographic Details
Main Authors: Cédric Mongellaz, Rita Vicente, Lenora M. Noroski, Nelly Noraz, Valérie Courgnaud, Javier Chinen, Emilia Faria, Valérie S. Zimmermann, Naomi Taylor
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiencies (PID)
ZAP-70
Syk
TCR zeta chain
SH2 mutations
autoimmunity
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1155883/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2023.1155883/full

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