Primary immunodeficiency diseases
J. M. Puck
Primary immunodeficiencies are rare, but important for 3 reasons. First, a
high index of suspicion and prompt diagnosis can lead to lifesaving
treatment or significant improvement in quality of life. Second,
appreciation of the genetic nature of a host defense defect makes possible
family counseling and carrier and prenatal diagnosis. Finally, the large
and growing list of human genetic defects in immune pathways provides an
important tool for understanding human immunoregulation. Many inherited
immunodeficiency diseases have had their genetic cause proven with the
discovery of their disease genes within the past 5 years. These diseases
provide a framework into which additional diseases and disease gene
discoveries can be added as the rapid progress in molecular immunology and
genetics continues.
