1. Severe Combined
Immunodeficiency
By Vanessa Wong

2. Severe Combined Immunodeficiency is a a primary immune deficiency .
This disorder causes severe problems with T cells, as well as antibody-creating
B cells.
• Some symptoms of this disorder include getting sick frequently, skin
infections, failure to grow normally, and fungal infections.
• Severe Combined Immunodeficiency can be fatal, but can be cured if
treated early enough in the infant’s life.
• Unless treated and cured, it is difficult to survive with this disorder. In
addition, vaccines cannot be given to children with this disease because
their immune system cannot fight the virus.

3. What causes it?
Since there are many forms of Severe Combined
Immunodeficiency, there are multiple genetic defects that
cause this disorder.
• This disorder is most commonly linked to the X
chromosome.
• On rare occasions, this disorder can be recessively linked
to chromosomes 19 and 20.
• Defects in genes ADA and IL2RG are what cause this.
ADA IL2RG

4. Treatments
• Bone marrow transplants – For this treatment, donors
must be 100% HLA identical to the patient.
• Bubbles – This treatment, earning the disorder the
nickname of ‘Bubble Boy Disease,’ is when a child lives
his or her life in sterilized bubble.
• Gene therapy – In this treatment, doctors take the cells
and alter the genes in them. Although it corrected most
of the problems, this is not a completely successful
procedure.

5. For more information, visit:
www.scid.net
www.primaryimmune.org
www.ipopi.org/