HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

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Abstract

Immunodeficiency often coincides with hyperactive immune disorders such as autoimmunity, lymphoproliferation, or atopy, but this coincidence is rarely understood on a molecular level. We describe five...

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Donna M Muzny, Richard A Gibbs, James R Lupski , Jordan S Orange, Geoffrey D E Cuvelier , Moza Al Hassani , Nawal Al Kaabi , Zain Al Yafei , Soma Jyonouchi , Nikita Raje , Jason W Caldwell , Yanping Huang , Janis K Burkhardt , Sylvain Latour , Baoyu Chen , Gehad ElGhazali , V Koneti Rao , Ivan K Chinn , Michael J Lenardo

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Citation

Science 2020 Jul 10;369(6500):202-207

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