Basic Molecular Defect in ADA SCID
Severe deficiency of adenosine deaminase (ADA) is known to be associated with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in man1. Different theories have been proposed to explain the basic defect in ADA¯SCID. They include: a mutation in the structural gene for ADA or chromosome 201–3, a mutation in a gene regulating5 the expression of ADA4, the occurrence of an ADA specific inhibitor and a defect in the post-translational modification of ADA6, implying a defect in the adenosine deaminase complexing protein (ADCP) molecule, whose structural gene is on human chromosome 2, or in its complex formation with ADA7,8.
KeywordsAdenosine Deaminase Basic Defect Somatic Cell Hybrid Autosomal Recess Severe Combine Immunodeficiency Disease
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