Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1 - Cui, Ye; Keles, Sevgi; Charbonnier, Louis-Marie; Julé, Amélie M.; Henderson, Lauren; Celik, Seyma Celikbilek; Reisli, Ismail; Shen, Chen; Xie, Wen Jun; Schmitz-Abe, Klaus; Wu, Hao; Chatila, Talal A. (Journal of allergy and clinical immunology, 2020)
Keywords: Adolescent; Amino Acid Motifs; Child, Preschool; DNA polymerase delta 1; DNA Polymerase III - genetics; DNA Polymerase III - immunology; DNA polymerase δ1 catalytic subunit; Female; HEK293 Cells; Humans; Loss of Function Mutation; Mutation, Missense; POLD1; primary immunodeficiency; Protein Domains; replication factor C; Severe Combined Immunodeficiency - genetics; Severe Combined Immunodeficiency - immunology; Severe Combined Immunodeficiency - pathology; Whole Exome Sequencing; Polδ; POLBc; TCR; PCNA; WES; TRB; DNA polymerase δ1 catalytic subunit; RFC; POLD1; MD; primary immunodeficiency; LRTI; SHM; CDR3; VDJ; WT; DNA polymerase delta 1; Treg; IGH; TEMRA; VExP; POLA1; URTI; POLE2; replication factor C; whole-exome sequencing; BrdU