Is the Study of Monogenic Diseases of the Immune System Relevant?

National Institutes of Health
Owner:National Institutes of Health

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More than 350 monogenic disorders of the immune system have been discovered. They are rare diseases, however, with an estimated overall frequency of one in 2,000 to 3,000 live births. This study of rare diseases is continuously providing a flow of information on how the human immune system is built; how it fights infection and avoids autoimmune, inflammatory, allergic diseases; and some cancers. This information will be illustrated during Dr. Fischer’s lecture as he describes recent findings from his laboratory. These vignettes will include the critical role of T-cell expansion to control viral infections, in particular Epstein-Barr virus; the discussion of genetic causes of autoimmunity occurring in children as exemplified by Evans syndrome; systemic lupus erythematosus; and the study of a rare T-cell lymphoma. These results and their interpretation may impact the medical care of these diseases, notably by revealing potentials for targeted therapy. They may also contribute to the understanding and therapy of other related common diseases.

SpeakerAlain Fischer
Alain Fischer
He received his M.D. in 1979 and a PhD in immunology during the same year. After a post-doctoral stay at the University College in London, he started independent research in an INSERM unit at the Necker Hospital in Paris. In 1988, Alain Fischer became a professor in pediatric immunology. Since 1991, he directs the INSERM research unit for “Normal and pathological development of the immune system” and, since 1996, the clinical unit of Pediatric Immunology and Hematology at the Necker Hospital in Paris. He has been the President of the Immunology Committee at INSERM, Adviser for Medical Research at the Ministry of Research in France, Director of the French Program “Research on rare diseases”, Member of the Initiative Committee on the reform of the French research system, and Vice-President of the board of the Pasteur Institute. His main areas of research are the development of the lymphoid system, primary immunodeficiencies, genetics of immunological disorders and gene therapy. During the course of the last fifteen years Professor Fischer and his co-workers have analyzed the mechanisms of hereditary diseases of the immune system.


Eastern Time (US and Canada)

February 21, 2019 12:00 pm GMT-05:00

Beijing, Shanghai (China)

February 22, 2019 1:00 am GMT+08:00

Berlin (Germany)

February 21, 2019 6:00 pm GMT+01:00


Med. 30-60 min



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