Severe Combined

Immunodeficiency

By Vanessa Wong

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.

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

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.

For more information, visit:

www.scid.net

www.primaryimmune.org

www.ipopi.org/