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pro vyhledávání: '"Stephan Toutain"'
Autor:
Michael S. Hershfield, Anton Berns, A. A. J. Migchielsen, Stephan Toutain, M. L. Breuer, D. Valerio, Ossendorp F, van Roon Ma, Zurcher C, te Riele H
Publikováno v:
Nature genetics. 10(3)
We report the generation and characterization of mice lacking adenosine deaminase (ADA). In humans, absence of ADA causes severe combined immunodeficiency. In contrast, ADA–deficient mice die perinatally with marked liver–cell degeneration, but l
Autor:
Stephan Toutain, Howard M. Lederman, Kathleen E. Sullivan, Jeff Greene, Mary Beth Fasano, Jerry A. Winkelstein, Michael S. Hershfield, Amy Fleischman
Publikováno v:
Clinical Diagnostic Laboratory Immunology. 5:399-400
The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely variable and include clinical and immunologic findings compatible with common variable immunodeficiency. The screening of 44 patien
Autor:
Shannon Daniels, Michael S. Hershfield, Ines Santisteban, Stephan Toutain, Francisco X. Arredondo-Vega
Publikováno v:
The American Journal of Human Genetics. (4):1049-1059
SummaryAdenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID), but others are diagnosed later in childhood (d