X-linked severe combined immunodeficiency disease (X-linked SCID, X-SCID) is caused by hemizygous pathogenic variants in the IL2RG gene, resulting in a syndrome of combined cellular and humoral immunity. The incidence of SCID is about 1/100,000 to 2/100,000. X-SCID is the most common type, accounting for about 50% of all SCID incidence. The disorder is inherited in an X-linked manner. If the mother is a carrier, the chance of the baby inheriting the pathogenic variant is 50%. Children usually develop symptoms within 2-6 months after birth, manifesting as persistent diarrhea, respiratory symptoms, thrush, pneumocystis pneumonia, and failure to thrivegrowth arrest. Almost all children with SCID die within 2 years of age.
The treatment of X-SCID is mainly symptomatic therapy, replacement therapy and allogeneic hematopoietic stem cell transplantation. Common alternative therapies such as preventive isolation, anti-infection, and nutritional support can only alleviate symptoms in the short term, but have no significant improvement in the long-term survival rate. In addition, due to factors such as age, co-infection, donor source, and type of X-SCID, the clinical application of allogeneic hematopoietic stem cell transplantation is greatly limited. Therefore, gene therapy brings hope to patients and their families.
Gene Therapy for Severe Combined Immunodeficiency Disease (SCID)
Background introduction
Current progress
Design and construction of the lentiviral vector used in MLD gene therapy have been completed. The transduction effect and target gene expression efficiency of the viral vector have been examined by experiments in cell lines and primary hematopoietic stem cells in vitro, laying the foundation for further clinical transformation.
Clinical patient recruitment
TBA
