gene therapy for X-linked severe combined immunodeficiency

Gene therapy for X-linked severe combined immunodeficiency (SCID-X1) is an investigational therapeutic approach designed to treat patients with SCID-X1, a rare, life-threatening genetic disorder caused by mutations in the IL2RG gene. The IL2RG gene encodes the common gamma chain (γc) subunit, which is a critical component of receptors for multiple interleukins (including IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21) necessary for normal T-cell, B-cell, and natural killer (NK) cell development. This ex vivo gene therapy typically involves harvesting autologous CD34+ hematopoietic stem and progenitor cells (HSPCs) from the patient, transducing them with a self-inactivating lentiviral or retroviral vector carrying a functional copy of the human IL2RG gene, and reinfusing the gene-corrected cells back into the patient, often following low-dose busulfan conditioning. This approach aims to restore long-term, multi-lineage immune reconstitution without the need for a matched donor.

Other names

IL2RG gene therapyIL-2RG gene therapyIL 2RG gene therapylentiviral gene therapy for X-linked severe combined immunodeficiencySCID-X1 gene therapySCID-X-1 gene therapySCID-X 1 gene therapyX-linked severe combined immunodeficiency gene therapyX-SCID gene therapy