The new study underlined the urgent need to develop better therapeutic strategies for patients suffering from severe combined immunodeficiency (SCID), better known as "follicular disease".
International research published in the journal Blood by scientists at Universite de Montreal found better ways to increase the chances of surviving children with rare immunodeficiency.
Alveolar disease is a rare syndrome characterized by a complete lack of the body's immune system. Children affected by the disease have no immunity and are susceptible to bacteria, viruses and fungi, causing repeated serious infections. Without proper treatment, in most cases the disease ends in death in the first months after birth.
SCID can be caused by mutations in various genes involved in the functioning of the immune system. New research shows that the nature of the mutant gene (or genotype) has a significant impact on the survival of patients and the reproduction of their immune system after bone marrow transplantation. According to this study, the genotype must be taken into account when adapting treatment strategies to individual patients.
"Diseases of the immune system are among the most important priorities in the field of care, teaching and research" – said Dr. Elie Haddad, a scientist. "Having access to such a group of patients with this rare disease and for so long has provided us with meaningful and unique data to deepen our knowledge in this field."
The results showed that patient survival rates were higher after transplanting cells from matched donor-siblings. For donors from other donor types, which account for 86 percent of cases, the data showed that the SCID genotype had a strong effect on immune survival and 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 both were significantly associated with improved survival after transplantation.
"We need to develop tailored treatment strategies," said Haddad. "There is a critical need for neonatal screening to establish appropriate isolation, implement infection prevention measures, especially before transplantation, and ensure rapid referral for bone marrow transplantation or gene therapy after diagnosis."
The study also pointed to the need to closely monitor the reconstitution of the immune system after treatment to identify patients with conditions that might require additional intervention and prevent poor long-term predictions. Further research will be needed to identify patient and transplant factors that will limit the reconstruction of the early immune system and to determine the most appropriate and effective interventions.
(This story has not been modified by Business Standard employees and is generated automatically from the syndicated channel).