When the Wall Comes Tumbling Down: Primary Immune Deficiency Diseases
AIDS provides an example of destruction of the adaptive immune system by an external agent, HIV. But immune function can also be disrupted by natural mutations in any of the hundreds of genes that underlie operation of the immune system, from genes that direct assembly of antibodies and cytokines or their receptors, to genes that guide production and maturation of immune system cells. The result is primary immunodeficiency disease. One category of these diseases (severe combined immunodeficiency disease: SCID) even produces newborns that are, in effect, tiny AIDS patients. This chapter presents research directions that may lead to better management of these diseases.
Keywords: immunodeficiency disease, genetic diseases, ADA-SCID, X-linked SCID
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