Thursday, February 29, 2024 Rare Genetic Variants in People Lead to PCTRA Deficiency and Hint at New T Cell Pathways Scanning electron micrograph of a human T lymphocyte (also called a T cell) from the immune system of a healthy donor. Credit: NIAID Scientists at NIAID, INSERM, Rockefeller University and CHOP have discovered a rare genetic variant in people that leads to PCTRA deficiency, affecting the formation of alpha/beta T cells. People with the variant have a low number of T cells, with some surviving to adulthood. Additionally, the researchers found that some variants of the gene lead to autoimmune conditions. The effects of these gene variants, which are less severe than predicted, hint at undiscovered pathways for T cell development. The findings were published today in Science. National Institute of Allergy and Infectious Diseases  |  National Institutes of Health Update your subscriptions, modify your password or e-mail address, or stop subscriptions at any time on your Subscriber Preferences Page. You will need to use your e-mail address to log in. If you have questions or problems with the subscription service, please contact Subscriber Help. This service is provided to you at no charge by National Institute of Allergy and Infectious Diseases (NIAID).                             This email was sent to myhcistech.healthnews360@blogger.com using GovDelivery Communications Cloud on behalf of: National Institute of Allergy and Infectious Diseases · 5601 Fishers Lane · Bethesda, MD 20892 · 1-866-284-4107