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

Journal of Allergy and Clinical Immunology

Volumn 137, Issue 3, 2016, Pages 955-957.e8

  Parry, David A ^a   Holmes, Tim D ^a,b   Gamper, Nikita ^c   El Sayed, Walid ^c,d   Hettiarachchi, Nishani T ^c   Ahmed, Mushtaq ^e   Cook, Graham P ^a   Logan, Clare V ^a   Johnson, Colin A ^a   Joss, Shelagh ^f   Peers, Chris ^c   Prescott, Katrina ^e   Savic, Sinisa ^a   Inglehearn, Chris F ^a   Mighell, Alan J ^a,c  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d GULF MEDICAL UNIVERSITY   (United Arab Emirates)

^e CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^f SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; STROMAL INTERACTION MOLECULE 1; CALCIUM; MEMBRANE PROTEIN; STIM1 PROTEIN, HUMAN; TUMOR PROTEIN;

ADULT; AMELOGENESIS IMPERFECTA; ANHIDROSIS; ANTIBODY RESPONSE; CALCIUM CELL LEVEL; CD8+ T LYMPHOCYTE; CHILD; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; FEMALE; GENOTYPE; HOMOZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNE DYSREGULATION; IMMUNE RESPONSE; LETTER; MISSENSE MUTATION; NATURAL KILLER CELL; PERSISTENT INFECTION; PRIORITY JOURNAL; RECESSIVE GENE; SCHOOL CHILD; STORE OPERATED CALCIUM ENTRY; T CELL DEPLETION; CONSANGUINITY; FAMILY; GENETIC ASSOCIATION STUDY; GENETICS; HOMOZYGOTE; IMMUNOLOGY; METABOLISM; MUTATION; PHENOTYPE;

CALCIUM; CONSANGUINITY; FAMILY; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; KILLER CELLS, NATURAL; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; STROMAL INTERACTION MOLECULE 1;

EID: 84964461775     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.08.051     Document Type: Article

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