A guide to Severe Combined Immunodeficiency Disease, review released

Dec 18 2017

A new review published today in the Canadian Medical Association Journal provides guidance on Severe Combined Immunodeficiency Disease (SCID), a deadly and rare disease that is potentially curable if detected early.

Credit: Liudmila Fadzeyeva/ Shutterstock.com

If detected at birth or shortly after, SCID, referred to as the "bubble boy disease" in the 1970s, can be treated with a stem cell transplant, gene therapy, and other treatments. The death rate of this condition is at least 30%, with infection being the cause for 60% of deaths in infants.

The review, created by a pan-Canadian group of physicians, aims at family physicians, pediatricians, and other doctors who treat newborns, including those that seem healthy at birth but start to develop severe or repeated infections that necessitate emergency department visits. It provides guidance on the method of approaching patients and to counsel families that are forced to face an abnormal screen.

The team included physicians from BC Children's Hospital, University of British Columbia, Vancouver, BC; IWK Health Centre and Dalhousie University, Halifax, Nova Scotia; University of Montreal and CHU Sainte-Justine, Montréal, Quebec; and the Hospital for Sick Children and the University of Toronto, Toronto, Ontario.

The review also advises on what features to check for in newborns with recurring illnesses,information on screening and diagnosis, and treatments for the condition.

The authors of the review concluded that the opportunity to detect SCID early in life has changed the outcomes of this otherwise fatal condition.

Introducing this assay into newborn screening programs throughout Canada has the potential to save lives and prevent suffering of patients and families affected by this condition,"

In Canada, Ontario was the first jurisdiction that offered SCID screening in 2013 as a part of the heel prick test carried out immediately after birth. Screening has also been expanded to the Maritime Provinces of the nation and will soon be implemented in various other provinces.