This very rare primary immune deficit is caused by mutation of the Artemis gene and is characterized by a complete absence of T and B lymphocytes associated with increased cellular sensitivity to ionizing radiations. The only treatment is a bone marrow graft from a compatible donor.
Development program for a gene therapy trial
- Reference laboratory: Genethon
The program for the development of gene therapy is based on the construction of a lentiviral vector expressing the Artemis gene at levels which are efficient and non-toxic in stem cells and in the immune system of patients. Preclinical studies and the construction of the clinical vector are carried out at Genethon in collaboration with Professor Hacein-Bey Abina and Dr. Cavazzana-Calvo (CIC Biotherapie, Hopital Necker-Enfants Malades), with financial support from INSERM/DGOS.