Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
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 l...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2012
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| _version_ | 1797068759505043456 |
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| author | Heindl, M Händel, N Ngeow, J Kionke, J Wittekind, C Kamprad, M Rensing-Ehl, A Ehl, S Reifenberger, J Loddenkemper, C Maul, J Hoffmeister, A Aretz, S Kiess, W Eng, C Uhlig, H |
| author_facet | Heindl, M Händel, N Ngeow, J Kionke, J Wittekind, C Kamprad, M Rensing-Ehl, A Ehl, S Reifenberger, J Loddenkemper, C Maul, J Hoffmeister, A Aretz, S Kiess, W Eng, C Uhlig, H |
| author_sort | Heindl, M |
| collection | OXFORD |
| description | 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 mucosa-associated lymphoid tissue revealed increased signaling via the PI3K-AKT pathway, including phosphorylation of S6 and increased cell proliferation, but also reduced apoptosis of CD20(+)CD10(+) B cells. Reduced activity of PTEN therefore affects homeostasis of human germinal center B cells by increasing PI3K-AKT signaling via mammalian target of rapamycin as well as antiapoptotic signals. |
| first_indexed | 2024-03-06T22:14:44Z |
| format | Journal article |
| id | oxford-uuid:5300674b-2820-416c-ab4e-d7e0f9a32dce |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:14:44Z |
| publishDate | 2012 |
| record_format | dspace |
| spelling | oxford-uuid:5300674b-2820-416c-ab4e-d7e0f9a32dce2022-03-26T16:28:58ZAutoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:5300674b-2820-416c-ab4e-d7e0f9a32dceEnglishSymplectic Elements at Oxford2012Heindl, MHändel, NNgeow, JKionke, JWittekind, CKamprad, MRensing-Ehl, AEhl, SReifenberger, JLoddenkemper, CMaul, JHoffmeister, AAretz, SKiess, WEng, CUhlig, HThe 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 mucosa-associated lymphoid tissue revealed increased signaling via the PI3K-AKT pathway, including phosphorylation of S6 and increased cell proliferation, but also reduced apoptosis of CD20(+)CD10(+) B cells. Reduced activity of PTEN therefore affects homeostasis of human germinal center B cells by increasing PI3K-AKT signaling via mammalian target of rapamycin as well as antiapoptotic signals. |
| spellingShingle | Heindl, M Händel, N Ngeow, J Kionke, J Wittekind, C Kamprad, M Rensing-Ehl, A Ehl, S Reifenberger, J Loddenkemper, C Maul, J Hoffmeister, A Aretz, S Kiess, W Eng, C Uhlig, H Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title_full | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title_fullStr | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title_full_unstemmed | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title_short | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. |
| title_sort | autoimmunity intestinal lymphoid hyperplasia and defects in mucosal b cell homeostasis in patients with pten hamartoma tumor syndrome |
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