Treat babies with severe combined immunodeficiency

A new study underscores the urgent need to develop better treatment strategies for patients with severe combined immunodeficiency (CDTI), better known as "baby bubble disease."

The international study published in the journal Blood by researchers at the University of Montreal found better ways to improve the chances of survival of children with rare immunodeficiency.

The baby bubble disease is a rare syndrome characterized by a total non-function of the immune system. Affected children have no immune defense system and are vulnerable to bacteria, viruses and fungi, resulting in repeated serious infections. Without proper treatment, in most cases, this disease is fatal in the first few months after birth.

DICS can be caused by mutations of various genes involved in the functioning of the immune system. New research shows that the nature of the mutated gene (or genotype) has a significant influence on the survival of patients and the reconstitution of their immune system after bone marrow transplantation. According to the study, the genotype must be taken into account when adapting treatment strategies to each patient.

"Immune diseases are among the top priorities in terms of care, teaching and research," said researcher Dr. Elie Haddad. "Having access to such a cohort of patients with this rare disease over such a long time has provided us with significant and unique data to advance our knowledge in this area."

The results showed that patient survival rates were higher. after a transplant of cells from a matched donor. In recipients of other types of donors, which account for 86% of cases, the data showed that the SCID genotype had a strong influence on survival and immune reconstitution. In addition, the researchers found that young age and the lack of active infection at the time of transplantation were also key factors in survival, and that both were significantly badociated with the disease. improved survival after a transplant.

"We need to develop patient-specific treatment strategies," said Haddad. "It is absolutely necessary that neonatal screening establishes appropriate isolation, implements infection prevention measures, especially before transplantation, and ensures a rapid transfer for a bone marrow transplant." or from a gene therapy after the diagnosis. "

for close monitoring of immune system reconstitution after treatment to identify patients with conditions that may require additional intervention and avoid a poor long-term prognosis. Additional studies will be needed to identify patient and transplant factors that limit early immune system reconstitution and to determine the most appropriate and effective interventions.

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