A mutation in a single copy of the CTLA4 gene in people is associated with immune dysfunction. [Also see Perspective by Rieux-Laucat and Casanova]
Authors: Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, Elissa K. Deenick, Julie E. Niemela, Danielle T. Avery, Jean-Nicolas Schickel, Dat Q. Tran, Jennifer Stoddard, Yu Zhang, David M. Frucht, Bogdan Dumitriu, Phillip Scheinberg, Les R. Folio, Cathleen A. Frein, Susan Price, Christopher Koh, Theo Heller, Christine M. Seroogy, Anna Huttenlocher, V. Koneti Rao, Helen C. Su, David Kleiner, Luigi D. Notarangelo, Yajesh Rampertaap, Kenneth N. Olivier, Joshua McElwee, Jason Hughes, Stefania Pittaluga, Joao B. Oliveira, Eric Meffre, Thomas A. Fleisher, Steven M. Holland, Michael J. Lenardo, Stuart G. Tangye, Gulbu Uzel