[The molecular basis of primary immunodeficiency syndrome and the current therapeutic approach for the disease].
The development of genetic tools in recent years has enabled characterization of the molecular basis of several genetic disorders of the human system. These findings have led to better understanding of the physiology of the human system as well as to the establishment of improved diagnosis tools offering new perspectives in genetic counseling and therapeutics. Recently, genetic disorders of the regulation of the immune system have been described both in humans and mice. These diseases are characterized by defective control of activation/proliferation of lymphocytes and macrophages. These findings opened a new field in immunological research. Detailed analysis of the molecular basis and functional characterization of the affected gene product may help to understand the phenotype of the patients. Considerable progress has been made in the therapeutics for these patients including unrelated bone marrow transplantation, cord blood stem cell transplantation, and gene therapy. Ex vivo expanded activated T cell transfusion, a new therapeutic approach to control opportunistic infection, may be effective for some patients with impaired T cell function.
Morio
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Department of Pediatrics, Tokyo Medical & Dental University, School of Medicine.
D000818:Animals; D005817:Genetic Counseling; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000628:therapy*; D051379:Mice