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Better management of patients with severe combined immunodeficiency (SCID) can be enabled with the new test developed by the researchers of CHU Sainte-Justine in Montreal.

The results of this study are presented in the medical journal Blood Progress, published by the American Society of Hematology. Routine neonatal screening, although not yet available in Quebec, has led to an increase in the incidence of patients diagnosed with SCID in North America in recent years.

This syndrome, a group of hereditary genetic disorders are rare, characterized by the total absence of immune system function, including the absence of T-lymphocytes, white blood cells that play an important role in immune defense.

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Without proper treatment, a fatal disorder during the first months of life in most cases.

Many genes involved in SCID have been identified, but doctors sometimes encounter patients who have no identified genetic abnormalities.

“Depending on the nature of the mutated gene, there are two treatments for SCID: either a bone marrow transplantation or thymus transplantation. We still need to identify the type of disease to choose the right treatment options. ”

Good genes involved can disrupt hematopoietic stem cells in the bone marrow which consequently can not naturally be a T-cell, or may affect the function of the thymus. The thymus is an organ that immature white blood cells from the bone marrow to ‘learn’ to be a T-cell.

When doctors can not identify the real cause of the disorder, they usually turn to bone marrow transplantation. They do so for two reasons: first, the transplant is easier to perform, and the second, between the known genes, is responsible for the dysfunction of hematopoietic cells than to damage the thymus.

However, knowing the origin of the disease is important, because if the thymus is not working properly, then a bone marrow transplant will have no effect, and vice versa.

“Given the clinical needs of this, our goal is to create a functional test by taking a very small volume of peripheral blood rather than bone marrow samples, which is a more complex process to perform in infants and more invasive than a simple blood test,” said Panojot Bifsha, author the first such studies.

Quebec as a hub treatment and research for children with rare diseases or serious, CHU Sainte-Justine trying to stay one step ahead in research niches that are well known, such as genetic rare diseases and innovative treatments in the treatment precision.

Additional studies will be needed to further validate new tests and allow it to be used on patients.

(This story has been published from a wire agency feed without modifications to the text. Only the headline has been changed.)

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