| 摘 要： | 1. General Aspect Primary immunodeficiencies - an introduction Alain FIsher Department of Pediatric Immunology - Necker Hospital, INSERM U 768 and Universite Rene Descartes, Paris, France The immune system is a very complex and sophisticated tool that has evolved to provide efficient defenses against a myriad of environmental microorganisms. Many pieces of this system can be defective by gene mutations leading to primary immunodeficiency diseases. Today more than 130 conditions have been described to affect either innate and/or adaptive immunity. Molecular characterization of more than one hundred of them has been achieved. They are the basis of essential information for a series of reasons : i/ they provide as many clues to better understand how the human immune system is differentiating, exerts its effector functions to fight a given microorganism and is regulated; ii/ diagnostic tools are being developed which are useful both for a better characterization of individual cases sometimes helping to define a prognosis, and hence therapeutic strategy for genetic counselling; iii/ they provide the basis for the development of new therapeutics such as immunoglobulin substitution of B cell immunodeficiencies, or presently ADA substitution and tomorrow gene therapy. It is crucial to pursue these efforts and to make available worldwide these advances.
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