Pediatric immune diseases, all genetics?
Alain Fischer, M.D., Ph.D.
Collège de France
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 how it is related to some cancers. Examples 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 the 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 affect the medical care of these diseases notably by revealing potentials for targeted therapy. The findings may also contribute to the understanding of and therapy for other related common diseases.
This page was last updated on Wednesday, August 11, 2021