A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Lanzi, GaetanaMoratto, DanieleVairo, DonatellaMasneri, StefaniaDelmonte, OttaviaPaganini, TizianaParolini, SilviaTabellini, GiovannaMazza, CinziaSavoldi, GianfrancoMontin, DavideMartino, SilvanaTovo, PierangeloPessach, Itai M.Massaad, MichelRamesh, NarayanaswamyPorta, FulvioPlebani, AlessandroNotarangelo, LuigiGeha, RaifGiliani, Silvia2013-03-182012Lanzi, Gaetana, Daniele Moratto, Donatella Vairo, Stefania Masneri, Ottavia Delmonte, Tiziana Paganini, Silvia Parolini, Giovanna Tabellini, Cinzia Mazza, Gianfranco Savoldi, Davide Montin, Silvana Martino, Pierangelo Tovo, Itai M. Pessach, Michel J. Massaad, Narayanaswamy Ramesh, Fulvio Porta, Alessandro Plebani, Luigi D. Notarangelo, Raif S. Geha, and Silvia Giliani. 2012. A novel primary human immunodeficiency due to deficiency in the wasp-interacting protein wip. The Journal of Experimental Medicine 209(1): 29-34.0022-1007http://nrs.harvard.edu/urn-3:HUL.InstRepos:10436337A homozygous mutation that gave rise to a stop codon in the WIPF1 gene resulted in WASP protein destabilization and in symptoms resembling those of Wiskott-Aldrich syndromeen-USA novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPJournal Article2013-03-1810.1084/jem.20110896