publications

Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation.

Liggett, L AlexanderGalbraith, Matthew DSmith, Keith PSullivan, Kelly DGranrath, Ross EEnriquez-Estrada, BelindaKinning, Kohl TShaw, Jessica RRachubinski, Angela LEspinosa, Joaquin MDeGregori, James

Summary

Clonal hematopoiesis (CH) is a phenomenon in which stem cells that produce blood cells become less and less diverse over time. People with Down syndrome (DS) exhibit altered blood cell production and they have a significantly increased risk of developing myeloid and B-cell leukemias. This study seeks to better understand the associations between CH, DS, and leukemia. The results indicate that CH is more detectable in young individuals with DS and its presence is characterized by frequent mutations in genes associated with leukemia (primarily TET2).