POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

J Clin Immunol. 2021 Jan;41(1):270-273. doi: 10.1007/s10875-020-00903-6. Epub 2020 Nov 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / cytology
  • B-Lymphocytes / metabolism*
  • Biomarkers
  • Cell Differentiation / genetics*
  • Cell Differentiation / immunology
  • Child
  • Consanguinity
  • DNA Polymerase III / deficiency*
  • DNA Repair*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Lymphopoiesis / genetics*
  • Lymphopoiesis / immunology
  • Male
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • T-Lymphocytes / cytology
  • T-Lymphocytes / metabolism*

Substances

  • Biomarkers
  • POLD1 protein, human
  • DNA Polymerase III