Radiosensitive Severe Combined Immunodeficiency (Artemis gene mutation)

Research Pre-clinical phase Phase I or I/II  

This very rare primary immunodeficiency disorder is a particular, uncommon form of severe combined immunodeficiency disorders (SCID).

Like all SCIDs, this disease manifests at an early age in infants as recurrent and severe infections, diarrhea, pneumonia, growth retardation. Without treatment these children usually die at about the age of 1 year. RS-SCID affects both sexes.
Immunologically, RS-SCID is characterized by a complete absence of T and B lymphocytes, associated with increased cell sensitivity to ionizing radiation, hence the term radio-sensitive (RS) -SCID. The most common form of RS-SCID is caused by a mutation of the DCLRE1C gene that encodes the protein Artemis, a major component of DNA repair complexes and gene recombination in cells. The incidence of Artemis RS-SCID is very rare in Europe (less than 1 / 500,000 births).

Currently, the only available treatment for RS-SCID is bone marrow transplantation but serious complications can occur, including graft-versus-host disease.

Gene therapy involving a gene transfer into the patient’s hematopoietic stem cells could represent a treatment alternative.

A lentiviral gene transfer vector was developed in collaboration with the Fondation Imagine at the Hôpital Necker Enfants-Malades in Paris.

Preclinical research was conducted at Genethon and a clinical trial is being prepared at Hôpital Necker.