Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis.

•Ex vivo corrected autologous HSCs might cure Autosomal Recessive Osteopetrosis (ARO).•There is no animal model to prove in vivo functional rescue of corrected human cells.•NSG oc/oc mice display osteoclast-rich cell-autonomous ARO and immunodeficiency.•Human CD34+ cell-transplanted NSG oc/oc mice show human cell chimerism in the BM.•Further improvements will allow in vivo evaluating corrected patient-derived cells.