Article
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
Nature medicine - 1 Jan 2007
Bohn Georg, Allroth Anna, Brandes Gudrun, Thiel Jens, Glocker Erik, Schäffer Alejandro A, Rathinam Chozhavendan, Taub Nicole, Teis David, Zeidler Cornelia, Dewey Ricardo A, Geffers Robert, Buer Jan, Huber Lukas A, Welte Karl, Grimbacher Bodo, Klein Christoph
Abstract excerpt
Lysosome-related organelles have versatile functions, including protein and lipid degradation, signal transduction and protein secretion. The molecular elucidation of rare congenital diseases affecting endosomal-lysosomal biogenesis has given insights into physiological functions of the innate and adaptive immune system. Here, we describe a previously unknown human primary immunodeficiency disorder and provide...
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