International research published in the journal Blood Researchers at the CHU Sainte-Justine and Professor of University of Montreal, a pediatric immunologist and researcher, Dr. Eli Haddad, emphasize the need to improve treatment strategies for patients with severe integral immune deficiency (SCID).
This deficiency, called "immature infantile disease," is a common non-functioning rare syndrome of the body's immune system. Damaged children have no immune defenses and are vulnerable to bacteria, viruses and fungi, which leads to secondary secondary infections. In the absence of adequate treatment, in most cases, this can lead to death in the first months after birth.
SCID can be caused by mutations in different genes that affect the functioning of the immune system. New studies have shown that the nature of the mutated gene (or genotype) has a significant effect on survival of the patients and on the recovery of the bone marrow through the immune system after transplantation. According to the research, it is necessary to consider the genotype in adapting the treatment strategies to individual patients.
44 Medical centers were involved
The First Consortium for Immune Deficiency Medicine (PIDTC), funded by the United States National Health Institute, includes 44 North American medical centers. Retrospective analysis of 662 patients with SCID, who received hematopoietic cell transplantation as the first therapy of these centers, which is the basis of PIDTC's new diagnostics, was the basis for 1982 and 2012.
"Immune diseases are one of the main priorities of the Saint Saint-Justine in terms of care, training and research," said Haddad. "In Quebec, there is only one SCID per year, which provides important and unique information for improving this knowledge for a long time, with access to such cures for rare patients."
The results showed that patients' living standards were relatively high after the donor transplantation. According to data from 86% of recipients of other donor forms, SCID genotype was a major factor affecting survival and immune regeneration. In addition, researchers have found that pillow and lack of active infections in transplantation are key factors in life, and both are associated with improved survival after transplantation.
Neonatal screening is essential
"We need to develop patient-specific treatment strategies," Haddad said. "It is necessary to isolate the neonatal screening system, especially in the context of transplantation, to provide prophylaxis, bone marrow transplantation or post-diagnostic gene therapy."
The research requires immediate follow-up of immune regeneration in the post-treatment period and identifies cases requiring additional intervention by patients and excludes poor long-term predictions. It will be necessary to conduct additional studies to identify factors that affect the restoration of the previous immune system and to determine the factors associated with transplantation and to identify the most effective and effective intervention.
"In our future studies, our goal is to analyze the climate and effectiveness of the restoration of the long-term immune system after hematopoietic cell transplantation for this disadvantage," said Haddad.