TY  - JOUR
AU  - Briones Contreras, Alejandro
AU  - Megino, Rebeca F.
AU  - Marín Marín, Ana Victoria
AU  - Chacón Arguedas, Carlos Daniel
AU  - García Martínez, Elena
AU  - Balastegui Martín, Héctor
AU  - Rodríguez Sainz, Carmen
AU  - Sánchez-Mateos Rubio, María Paloma
AU  - Cárdenas Mastrascusa, Paula Patricia
AU  - Regueiro González-Barros, José Ramón
PY  - 2024
DO  - 10.1016/j.jaci.2024.06.019
SN  - 0091-6749
UR  - https://hdl.handle.net/20.500.14352/107379
T2  - Journal of Allergy and Clinical Immunology
AB  - BackgroundThe invariant TCRζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its three immunoreceptor tyrosine‐based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit...
LA  - eng
PB  - Elsevier
KW  - CD247
KW  - TCRζ
KW  - CD3ζ
KW  - TCR
KW  - ITAM
KW  - Immunodeficiency
KW  - Autoimmunity
TI  - Nonsense CD247 mutations show dominant-negative features in TCR expression and function
TY  - journal article
ER  -