Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

• Published in: Journal of allergy and clinical immunology Vol. 145; no. 1; pp. 391 - 401.e8
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2020
• Subjects: 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

Mutations affecting DNA polymerases have been implicated in genomic instability and cancer development, but the mechanisms by which they can affect the immune system remain largely unexplored. We sought to establish the role of DNA polymerase δ1 catalytic subunit (POLD1) as the cause of a primary im...