Browsing by Author "Tabellini, Giovanna"

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

      Lanzi, Gaetana; Moratto, Daniele; Vairo, Donatella; Masneri, Stefania; Delmonte, Ottavia Maria; Paganini, Tiziana; Parolini, Silvia; Tabellini, Giovanna; Mazza, Cinzia; Savoldi, Gianfranco; Montin, Davide; Martino, Silvana; Tovo, Pierangelo; Pessach, Itai M.; Massaad, Michel; Ramesh, Narayanaswamy; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Luigi D.; Geha, Raif Salim; Giliani, Silvia (The Rockefeller University Press, 2012)
      A 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 syndrome