Publication
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Authors :Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, Karin R Engelhardt, Gina Doody, Jennifer Shrimpton, Anne Rensing-Ehl, Stephan Ehl, Frederic Rieux-Laucat, Catherine Cargo, Helen Griffin, Aneta Mikulasova, Meghan Acres, Neil V Morgan, James A Poulter, Eamonn G Sheridan, Philip Chetcuti, Sean O'Riordan, Rashida Anwar, Clive R Carter, Stefan Przyborski, Kevin Windebank, Andrew J Cant, Majlinda Lako, Chris M Bacon, Sinisa Savic, Sophie Hambleton
Titles of Publication :Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Journal Name :Blood
Quartile :Q1
Impact Factor :17.543
Link :10.1182/blood.2020005844
Description : These are the first reported cases of autosomal recessive germline TET2 deficiency in humans, causing clinically significant immunodeficiency and an autoimmune lymphoproliferative syndrome with marked predisposition to lymphoma. This disease phenotype demonstrates the broad role of TET2 within the human immune system.
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