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Discovering
the Gene Defects That Cause Primary Immunodeficiency Diseases
In a series of truly
remarkable discoveries, researchers have identified
the gene defects that cause many primary immunodeficiency diseases
including adenosine deaminase deficiency, purine nucleoside
phosphorylase deficiency, X-linked severe combined immunodeficiency,
MHC class II deficiency, CD3 deficiency, CD8 deficiency, X-linked
agammaglobulinemia, X-linked hyper IgM syndrome, Wiskott-Aldrich
syndrome, ataxia telangiectasia, chronic granulomatous disease,
leukocyte adhesion deficiency, and many of the complement deficiencies.
Discovering the
Role Gene Products Play in the Functioning of the Immune System.
Once a defective gene has been identified, the role the gene
product plays in the immune system can be evaluated. NIAID-supported
investigators have identified the function of the product
for some of the genes that cause primary immunodeficiency diseases.
This information can be used to develop new therapies for immune
system-mediated diseases.
Correcting the
Gene Defect in Isolated Cells. As a first step toward gene
therapy, NIAID-supported investigators as well as others
have succeeded in transferring normal genes into cells taken
from patients with primary immunodeficiency diseases and restoring
immune function in these cells in the laboratory.
Correcting the
Gene Defect in Patients. NIAID-supported researchers as
well as others have begun to take stem cells (the cells that
can generate all the cells of the immune system) from primary
immunodeficiency disease patients, transfer normal genes into
them, and give the cells back to the patient. Although these
first efforts have resulted in the presence of only very small
numbers of corrected cells in the blood of the patients, this
is an important first step in demonstrating safety
and feasibility.
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