Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Autor: Weiming Ouyang, Les R. Folio, V. Koneti Rao, Gulbu Uzel, Julie E. Niemela, Christine M. Seroogy, Eric Meffre, Bogdan Dumitriu, Kenneth N. Olivier, Bernice Lo, Jean Nicolas Schickel, Yu Zhang, Stefania Pittaluga, Yajesh Rampertaap, Luigi D. Notarangelo, Christopher Koh, Anna Huttenlocher, Joao Bosco Oliveira, Dat Q. Tran, Jason D. Hughes, Hye Sun Kuehn, David M. Frucht, Jennifer Stoddard, Thomas A. Fleisher, Michael J. Lenardo, Joshua J McElwee, Theo Heller, Steven M. Holland, Phillip Scheinberg, Susan Price, Helen C. Su, Danielle T. Avery, David E. Kleiner, Elissa K. Deenick, Stuart G. Tangye, Cathleen Frein
Rok vydání: 2014
Předmět:
Zdroj: Science. 345:1623-1627
ISSN: 1095-9203
0036-8075
Popis: Beware of T cells that don't know how to stop During an infection, T cells divide extensively and secrete proteins that can severely damage tissues. But T cells know when to stop—they express proteins on their surface such as CTLA4, which put on the brakes. Kuehn et al. now report genetic evidence of the importance of CTLA4 in humans (see the Perspective by Rieux-Laucat and Casanova). They identified six patients with mutations in one copy of CTLA4 . Patients presented with symptoms of an overzealous immune response, with immune cells infiltrating their organs. The findings support the idea that CTLA4 tells the immune system when enough is enough. Science , this issue p. 1623 ; see also p. 1560
Databáze: OpenAIRE