HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
| Autor: | Baoyu Chen, Susan Price, Moza Al Hassani, M. Cecilia Poli, Ivan K. Chinn, Zeynep H. Coban-Akdemir, Tram N. Cao, Sarah Cook, Sylvain Latour, Gehad ElGhazali, Geoffrey D.E. Cuvelier, Jason W. Caldwell, Sheng Yang, D. Eric Anderson, Jordan S. Orange, Douglas B. Kuhns, Lisa R. Forbes, Alexander Vargas-Hernández, Soma Jyonouchi, Nikita Raje, Aiman J. Faruqi, V. Koneti Rao, Michael J. Lenardo, Benjamin Fournier, Alexandre F. Carisey, Donna M. Muzny, Shalini N. Jhangiani, James R. Lupski, Morgan Similuk, Wadih Abou Chahla, Janis K. Burkhardt, Yanping Huang, Nawal Al Kaabi, William A. Comrie, Richard A. Gibbs, Margery G. Smelkinson, Emily M. Mace, Zain Al Yafei, Andrew J. Oler |
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| Přispěvatelé: | Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP) |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
CD4-Positive T-Lymphocytes
medicine.medical_treatment T cell [SDV]Life Sciences [q-bio] Mechanistic Target of Rapamycin Complex 2 Biology Filamentous actin mTORC2 Article 03 medical and health sciences 0302 clinical medicine Immune system medicine Humans Phosphorylation Mechanistic target of rapamycin Immunodeficiency ComputingMilieux_MISCELLANEOUS 030304 developmental biology Cell Proliferation 0303 health sciences Multidisciplinary Immunologic Deficiency Syndromes Membrane Proteins medicine.disease Actins Lymphoproliferative Disorders 3. Good health Cell biology Pedigree Wiskott-Aldrich Syndrome Protein Family Cytokine medicine.anatomical_structure biology.protein Cytokines ADP-Ribosylation Factor 1 030217 neurology & neurosurgery |
| Zdroj: | Science Science, American Association for the Advancement of Science, 2020, 369 (6500), pp.202-207. ⟨10.1126/science.aay5663⟩ BASE-Bielefeld Academic Search Engine |
| ISSN: | 0036-8075 1095-9203 |
| DOI: | 10.1126/science.aay5663⟩ |
| Popis: | An inherited disorder makes WAVEs The WAVE regulatory complex (WRC) is a multiunit complex that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for the WRC has not yet been established. Cook et al. studied five patients from four unrelated families who harbor missense variants of the gene encoding the WRC component HEM1. These patients presented with recurrent infections and poor antibody responses, along with enhanced allergic and autoimmune disorders. HEM1 was found to be required for the regulation of cortical actin and granule release in T cells and also interacted with a key metabolic signaling complex contributing to the disease phenotype. By linking these interactions to immune function, this work suggests potential targets for future immunotherapies. Science , this issue p. 202 |
| Databáze: | OpenAIRE |
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