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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

✍ Scribed by Rice, Gillian I. (author);Bond, Jacquelyn (author);Asipu, Aruna (author);Brunette, Rebecca L. (author);Manfield, Iain W. (author);Carr, Ian M. (author);Fuller, Jonathan C. (author);Jackson, Richard M. (author);Lamb, Teresa (author);Briggs, Tracy A. (author);Ali, Manir (author);Gornall, Hannah (author);Couthard, Lydia R. (author);Aeby, Alec (author);Attard-Montalto, Simon P. (author);Bertini, Enrico (author);Bodemer, Christine (author);Brockmann, Knut (author);Brueton, Louise A. (author);Corry, Peter C. (author);Desguerre, Isabelle (author);Fazzi, Elisa (author);Cazorla, Angels Garcia (author);Gener, Blanca (author);Hamel, Ben C.J. (author);Heiberg, Arvid (author);Hunter, Matthew (author);Van Der Knaap, Marjo S. (author);Kumar, Ram (author);Lagae, Lieven (author);Landrieu, Pierre G. (author);Lourenco, Charles M. (author);Marom, Daphna (author);McDermott, Michael F. (author);Van Der Merwe, William (author);Orcesi, Simona (author);Prendiville, Julie S. (author);Rasmussen, Magnhild (author);Shalev, Stavit A. (author);Soler, Doriette M. (author);Shinawi, Marwan (author);Spiegel, Ronen (author);Tan, Tiong Y. (author);Vanderver, Adeline (author);Wakeling, Emma L. (author);Wassmer, Evangeline (author);Whittaker, Elizabeth (author);Lebon, Pierre (author);Stetson, Daniel B. (author);Bonthron, David T. (author);Crow, Yanick J. (author)


Book ID
109914445
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
313 KB
Volume
41
Category
Article
ISSN
1061-4036

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Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin lev