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

A female offspring of consanguineous parents, showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, and impaired natural killer cell function. Cells from this patient had undetectable WAS protein (W...

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Autori principali: Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M., Massaad, Michel J., Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D., Geha, Raif S., Giliani, Silvia
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Rockefeller University Press 2012
Soggetti:
Brief Definitive Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260865/
https://ncbi.nlm.nih.gov/pubmed/22231303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20110896
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