Article
A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.
The Journal of clinical investigation - 1 Oct 2011
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
Abstract excerpt
T cells recognize antigens via their cell surface TCR and are classified as either αβ or γδ depending on the variable chains in their TCR, α and β or γ and δ, respectively. Both αβ and γδ TCRs also contain several invariant chains, including CD3δ, which support surface TCR expression and transduce the TCR signal. Mutations in variable chains would be expected to affect a single T cell lineage, while mutations in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.