Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression

Por Muñoz-Ruiz, Miguel, Pérez-Flores, Verónica, Garcillán, Beatriz, Guardo, Alberto C, Mazariegos, Marina S, Takada, Hidetoshi, Allende, Luis M, Kilic, Sara S, Sanal, Ozden, Roifman, Chaim M, López-Granados, Eduardo, Recio, María J, Martínez-Naves, Eduardo, Fernández-Malavé, Edgar, Regueiro, José R
Publicado em 2013

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

Por Recio, Maria J., Dominguez-Pinilla, Nerea, Perrig, Melina Soledad, Rodriguez Vigil-Iturrate, Carmen, Salmón-Rodriguez, Nerea, Martinez Faci, Cristina, Castro-Panete, María J., Blas-Espada, Javier, López-Nevado, Marta, Ruiz-Garcia, Raquel, Chaparro-García, Rebeca, Allende, Luis M., Gonzalez-Granado, Luis Ignacio
Publicado no Front Immunol (2019)

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ(–)Tγδ(+)B(+)NK(+) human SCID

Por Gil, Juana, Busto, Elena M., Garcillán, Beatriz, Chean, Carmen, García-Rodríguez, Maria Cruz, Díaz-Alderete, Andrea, Navarro, Joaquín, Reiné, Jesús, Mencía, Angeles, Gurbindo, Dolores, Beléndez, Cristina, Gordillo, Isabel, Duchniewicz, Marlena, Höhne, Kerstin, García-Sánchez, Félix, Fernández-Cruz, Eduardo, López-Granados, Eduardo, Schamel, Wolfgang W.A., Moreno-Pelayo, Miguel A., Recio, María J., Regueiro, José R.
Publicado em 2011