title: A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
authors.affiliation: Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; Section of Genetics, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: David A
authors.initials: DA
authors.lastname: Parry
authors.affiliation: Leeds Institute of Cancer and Pathology, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; Center for Infectious Medicine, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Tim D
authors.initials: TD
authors.lastname: Holmes
authors.affiliation: School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.
authors.forename: Nikita
authors.initials: N
authors.lastname: Gamper
authors.affiliation: School of Dentistry, University of Leeds, Leeds, United Kingdom; Oral Biology Department, Dental Collage, Gulf Medical University, Ajman, United Arab Emirates.
authors.forename: Walid
authors.initials: W
authors.lastname: El-Sayed
authors.affiliation: Division of Cardiovascular and Diabetes Research, School of Medicine, University of Leeds, Leeds, United Kingdom.
authors.forename: Nishani T
authors.initials: NT
authors.lastname: Hettiarachchi
authors.affiliation: Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, United Kingdom.
authors.forename: Mushtaq
authors.initials: M
authors.lastname: Ahmed
authors.affiliation: Leeds Institute of Cancer and Pathology, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: Graham P
authors.initials: GP
authors.lastname: Cook
authors.affiliation: Section of Genetics, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: Clare V
authors.initials: CV
authors.lastname: Logan
authors.affiliation: Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: Colin A
authors.initials: CA
authors.lastname: Johnson
authors.affiliation: Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom.
authors.forename: Shelagh
authors.initials: S
authors.lastname: Joss
authors.affiliation: Division of Cardiovascular and Diabetes Research, School of Medicine, University of Leeds, Leeds, United Kingdom.
authors.forename: Chris
authors.initials: C
authors.lastname: Peers
authors.affiliation: Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, United Kingdom.
authors.forename: Katrina
authors.initials: K
authors.lastname: Prescott
authors.affiliation: Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: Sinisa
authors.initials: S
authors.lastname: Savic
authors.affiliation: Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.
authors.forename: Chris F
authors.initials: CF
authors.lastname: Inglehearn
authors.affiliation: Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; School of Dentistry, University of Leeds, Leeds, United Kingdom. Electronic address: a.j.mighell@leeds.ac.uk.
authors.forename: Alan J
authors.initials: AJ
authors.lastname: Mighell
mesh_terms: D002118:Calcium / Q000378:metabolism*; D003241:Consanguinity; D005190:Family; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology* / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D000071737:Stromal Interaction Molecule 1
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1; D002118:Calcium