Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function

The invariant TCR ζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its 3 immunoreceptor tyrosine-based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit 50% reduced surface CD3. It is unclear whether carriers of ot...

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Detalhes bibliográficos
Autores: Briones, Alejandro C, Megino, Rebeca F, Marin, Ana V, Chacón-Arguedas, Daniel, García-Martinez, Elena, Balastegui-Martín, Héctor, Reyburn, Hugh T, Henrickson, Sarah E, Rodríguez-Sainz, Carmen, Seoane-Reula, Elena, Sanchez-Mateos, Paloma, Cardenas, Paula P, Regueiro, Jose R
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2024
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/374263
Acesso em linha:http://hdl.handle.net/10261/374263
https://api.elsevier.com/content/abstract/scopus_id/85200996428
Access Level:Acceso aberto
Palavra-chave:CD247
CD3ζ
ITAM
TCR
TCR ζ
Autoimmunity
Immunodeficiency
Descrição
Resumo:The invariant TCR ζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its 3 immunoreceptor tyrosine-based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit 50% reduced surface CD3. It is unclear whether carriers of other CD247 variants show dominant-negative effects.

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