What is included in patient education about severe combined immunodeficiency (SCID)?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Families must be informed about the risks of infection so that appropriate steps to avoid exposure to infection are instituted. They must be cautioned not to ignore a fever, rashes, or malaise in an affected child; these may indicate a serious infection.

Parents should be instructed to ensure that the child does not receive live virus vaccines, especially polio or BCG. Vaccinating children with SCID prior to treatment is not only futile, because they cannot make antibody, but is also very dangerous. The live attenuated virus can be deadly and can lead to disease in these immunocompromised hosts.

Genetic counseling is an essential part of medical care for the family, and the opportunity for prenatal diagnosis must be discussed. Parents must be informed of the risk of SCID in subsequent children, depending on X-linked or autosomal etiology. The risk that XL-SCID will occur in another child is 50% for male infants; female infants are not affected, but they have a 50% risk of being carriers. Any autosomal recessive mutation causing SCID places siblings at a 1 in 4 risk for the disorder.

With respect to informed consent, stem cell reconstitution must be discussed carefully with the family, particularly because the donor may be a sibling who is too young to understand the risks and benefits of the procedure. Under these circumstances, a guardian outside the family may most effectively guide this decision.

Furthermore, in weighing the likelihood of death unless stem cell reconstitution is attempted, it is essential that families are made aware of the high risk of fatal infection or GVHD in the recipient after transplantation. Communicate the high risk for life-threatening infection during the preparative immunosuppressive regimen (when indicated), in addition to the risk for failure to engraft and GVHD. Adequate informed consent for stem cell reconstitution must review these points.

When patients with SCID fail to engraft or develop GVHD after transplantation, other forms of stem cell reconstitution may be considered, including cord cell transplantation. Gene therapy is an option for XL-SCID and ADA-deficient SCID.

The Immune Deficiency Foundation is an important resource for education and support for patients and families with any primary immunodeficiency disease. The current address is 25 West Chesapeake Avenue, Suite 206, Towson, MD 21204; 877-666-0866. Some US states have local chapters.

The Jeffrey Modell Foundation also provides educational support for families and patients. It is located at 747 3rd Avenue, New York, NY 10017; 800-JEFF-844 (800-533-3844).

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