Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

• DOI: 10.1126/science.aaa1663
• Publication Date: 2015-07-23T18:09:07Z
• Authors: Bernice Lo; Kejian Zhang; Wei Lu; Lixin Zheng; Qian Zhang; Chrysi Kanellopoulou; Yu Zhang; Zhiduo Liu; Jill M. Fritz; Rebecca Marsh; Ammar Husami; Diane Kissell; Shannon Nortman; Vijaya Chaturvedi; Hilary Haines; Lisa R. Young; Jun Mo; Alexandra H. Fili...; Jack J. Bleesing; Peter Mustillo; Michael Stephens; Cesar M. Rueda; Claire A. Chougnet; Kasper Hoebe; Joshua McElwee; Jason D. Hughes; Elif Karakoc-Aydiner; Helen F. Matthews; Susan Price; Helen C. Su; V. Koneti Rao; Michael J. Lenardo; Michael B. Jordan
• Keywords: Abatacept; Immune Dysregulation

Trafficking from bedside to bench Typically in translational research, a discovery cell or molecular biology is later exploited improve patient care. Occasionally, information flows the opposite direction. Lo et al. found that patients with an autoimmune disorder caused by deficiency of protein called LRBA responded dramatically drug abatacept (see Perspective Sansom). Abatacept contains segment potent inhibitory immune receptor, CTLA4. Experiments prompted this observation revealed relationship between two proteins: controls intracellular trafficking and degradation This may further care, because other clinically approved drugs have desired mechanism action potentially fewer side effects. Science , issue p. 436 ; see also 377