Screening for severe combined immunodeficiency is coming to Quebec

Within a few months, newborns in Quebec will be systematically screened for severe combined immunodeficiency (SCID), which should considerably improve the prognosis of people with this rare disease.

Quebec is one of the last places in North America where systematic screening is not offered, as is the case in all American states and several Canadian provinces.

Babies with severe combined immunodeficiency have no immune system, which makes them vulnerable to even the slightest infection. Their life expectancy is less than a year without treatment.

The disease is often detected when the baby begins to show various health problems, such as growth retardation, diarrhea or recurrent infections. Gene therapy is possible in some cases, but the usual treatment is a bone marrow transplant to give the little patient an immune system.

“These are difficult treatments, and survival after these procedures, particularly bone marrow transplantation, was around 70%,” says Dr. Élie Haddad, from CHU Sainte-Justine. “We had already published in the past that we could not exceed this 70 or 75%.”

But a study recently published in the medical journal The Lancet by Haddad and colleagues clearly shows that the survival rate increases significantly up to 92.5% after transplantation if SCID is detected at birth, rather than after. that the baby has been sick several times.

This report from The Canadian Press was first published in French on June 22, 2023.