Nature Communications (Apr 2017)
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
- Walter H. A. Kahr,
- Fred G. Pluthero,
- Abdul Elkadri,
- Neil Warner,
- Marko Drobac,
- Chang Hua Chen,
- Richard W. Lo,
- Ling Li,
- Ren Li,
- Qi Li,
- Cornelia Thoeni,
- Jie Pan,
- Gabriella Leung,
- Irene Lara-Corrales,
- Ryan Murchie,
- Ernest Cutz,
- Ronald M. Laxer,
- Julia Upton,
- Chaim M. Roifman,
- Rae S. M. Yeung,
- John H Brumell,
- Aleixo M Muise
Affiliations
- Walter H. A. Kahr
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Fred G. Pluthero
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Abdul Elkadri
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Neil Warner
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Marko Drobac
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Chang Hua Chen
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Richard W. Lo
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Ling Li
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Ren Li
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Qi Li
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Cornelia Thoeni
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Jie Pan
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Gabriella Leung
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Irene Lara-Corrales
- Division of Pathology, The Hospital for Sick Children
- Ryan Murchie
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Ernest Cutz
- Division of Pathology, The Hospital for Sick Children
- Ronald M. Laxer
- Division of Rheumatology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children
- Julia Upton
- Division of Immunology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children
- Chaim M. Roifman
- Division of Immunology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children
- Rae S. M. Yeung
- Cell Biology Program, Research Institute, Hospital for Sick Children
- John H Brumell
- Cell Biology Program, Research Institute, Hospital for Sick Children
- Aleixo M Muise
- Cell Biology Program, Research Institute, Hospital for Sick Children
- DOI
- https://doi.org/10.1038/ncomms14816
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 14
Abstract
ARPC1B is a component of the actin-related protein 2/3 complex (Arp2/3), which is required for actin filament branching. Kahret al. show that ARPC1B deficiency in humans is associated with severe multisystem disease that includes platelet abnormalities, eosinophilia, eczema and other indicators of immune disease.
