Clinical Chemistry
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Clinical Chemistry 53: 159-160, 2007; 10.1373/clinchem.2006.081224
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(Clinical Chemistry. 2007;53:159-160.)
© 2007 American Association for Clinical Chemistry, Inc.

Editorials

Primary Immunodeficiency: Complex Genetic Disorders?

Lone Schejbela and Peter Garred

Tissue Typing Laboratory, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

aAddress correspondence to this author at: Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark. E-mail: Laogpd@mobilixnet.dk.

The first 20% of the full text of this article appears below.

Classical primary immunodeficiencies (PIDs) are usually monogenic (Mendelian) disorders affecting host defenses. More than 200 clinical phenotypes of PID have been described, and about 100 of them now have a well-defined molecular genetic basis (1). The classical example is X-linked agammaglobulinemia, in which disease-causing variants in the gene (BTK, Bruton agammaglobulinemia tyrosine kinase) coding for Bruton’s tyrosine kinase lead to arrest of B-cell development at the pre-B-cell stage (2). Identification and characterization of such monogenic diseases are not only helpful for diagnosis and genetic counseling but will be valuable in development of mechanism-based therapies or gene therapy. Gene therapy has been used to insert a functional gene in hematopoietic stem cells in children with severe combined immunodeficiency, and it is hoped that this procedure will supplement or even replace allogeneic bone marrow transplantations as a treatment option in many . . . [Full Text of this Article]






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Copyright © 2007 by the American Association for Clinical Chemistry.