Dépistage néonatal des déficits immunitaires combinés sévères : présentation de l'étude DEPISTREC

Severe combined immunodeficiency (SCID) is a genetic disorder characterized by a profound deficit of adaptive immunity marked by the absence of T-lymphocytes. Affected children are asymptomatic at birth but die of infections during the first year of life if they are not diagnosed and managed and are very vulnerable to secondary infections after injection of live vaccines. Hematopoietic stem cell transplantation or gene therapy can replace the faulty immune system and cure these children. Data published in the literature show that the survival of children with SCID and diagnosed before the age of three months is significantly higher than the survival of children diagnosed later. Early diagnosis of SCID would permit the rapid treatment of newborn carriers of the disease before the onset of severe infectious complications, improve survival and quality of life and decrease the side effects and cost of treatment. These data raise the question of the feasibility of generalized neonatal screening for SCID. A biological test called T-cell receptor excision circle (TREC) quantification may be performed using Guthrie cards that are already routinely collected from all infants for other screening tests. This method is highly sensitive and specific. The prospective study that we propose (DEPISTREC trial) aims to study the feasibility of generalized neonatal screening for SCID in France, its clinical and health economic utility and cost-effectiveness ratio. It will seek to show that generalized neonatal screening for SCID is feasible and acceptable to the population.