Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.

Masatoshi TakagiAkihiro HoshinoKristine BoussetJule RöddeckeHanna Luisa MartinIulia FolcutDan TomomasaXi YangJunya KobayashiNaoki SakataKenichi YoshidaSatoru MiyanoSeishi OgawaSeiji KojimaTomohiro MorioThilo DörkHirokazu Kanegane

Published in: Journal of clinical immunology (2023)

These findings indicate important roles of RAD50 in human bone marrow and immune cells. RAD50 deficiency/NBSLD can manifest as a distinct inborn error of immunity characterized by bone marrow failure and B-cell immunodeficiency.

Keyphrases

bone marrow
endothelial cells
mesenchymal stem cells
dna damage
dna repair
induced pluripotent stem cells
copy number