Get started
Work

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Year: 2015
Type: article
Abstract: Stromal interaction molecule 1 (STIM1) is a transmembrane protein pivotal to store-operated calcium entry (SOCE) that localizes to either the cell or endoplasmic reticulum (ER) membranes, with the N-terminus in either the extracellular space or the ER, respectively. Plasma membrane ORAI calcium release–activated calcium modulator 1 (ORAI1) Ca2+ channels are activated by STIM1. Families previously described with recessive STIM1 mutations (MIM #612783) had life-threatening viral, bacterial, and fungal infections; developmental myopathy; hypohidrosis; and amelogenesis imperfecta (AI; generalized developmental enamel abnormalities).
DOI: 10.1016/j.jaci.2015.08.051
Authors: David A. Parry, Tim D. Holmes, Nikita Gamper, Walid El-Sayed, Nishani T. Hettiarachchi, Mushtaq Ahmed, Graham P. Cook, Clare V. Logan, Colin A. Johnson, Shelagh Joss, Chris Peers, Katrina Prescott, Sinisa Savic, Chris F. Inglehearn, Alan J. Mighell
Institutions: University of Leeds, St James's University Hospital, Karolinska University Hospital, Gulf Medical University, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Southern General Hospital
Language: English
Subfield: Sensory Systems
Open Access status: hybrid
Estimated APC paid: $2,434
OpenAlex ID: W2180830660
FWCI: 2.72
Cites: 18
Cited by: 47
Related to: 10