Article
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
Gastroenterology - 1 May 2012
Heindl Mario, Händel Norman, Ngeow Joanne, Kionke Janina, Wittekind Christian, Kamprad Manja, Rensing-Ehl Anne, Ehl Stephan, Reifenberger Julia, Loddenkemper Christoph, Maul Jochen, Hoffmeister Albrecht, Aretz Stefan, Kiess Wieland, Eng Charis, Uhlig Holm H
Abstract excerpt
The Phosphatase And Tensin Homolog Deleted On Chromosome 10 (PTEN) regulates the phosphoinositol-3-kinase (PI3K)-AKT signaling pathway. In a series of 34 patients with PTEN mutations, we described gastrointestinal lymphoid hyperplasia, extensive hyperplastic tonsils, thymus hyperplasia, autoimmune lymphocytic thyroiditis, autoimmune hemolytic anemia, and colitis. Functional analysis of the gastrointestinal...
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