학술논문
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
Document Type
article
Author
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
Source
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Subject
Language
English
ISSN
2041-1723
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.