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Is the Study of Monogenic Diseases of the Immune System Relevant for More Common and Complex Diseases?

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Air date: Thursday, February 21, 2019, 12:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 298, (136 Live, 162 On-demand)
Category: WALS - Wednesday Afternoon Lectures
Runtime: 00:49:55
Description: NIH Director’s Wednesday Afternoon Lecture Series

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.
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NLM Title: Is the study of monogenic diseases of the immune system relevant for more common and complex diseases? / Alain Fischer, Ph.D., Professor and Chair of Experimental Medicine, College de France.
Author: Fischer, Alain.
National Institutes of Health (U.S.),
Publisher:
Abstract: (CIT): NIH Director's Wednesday Afternoon Lecture Series 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.
Subjects: Immune System Diseases--genetics
Rare Diseases
Publication Types: Lecture
Webcasts
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Caption Text: Download Caption File
NLM Classification: WD 300
NLM ID: 101743238
CIT Live ID: 31427
Permanent link: https://videocast.nih.gov/launch.asp?27337