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Author Correction: Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects

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Cellular & Molecular Immunology 2023年第1期20卷 114-114页

作者： Julika Neumann Erika Van Nieuwenhove Lara E.Terry Frederik Staels Taylor R.Knebel Kirsten Welkenhuyzen Kourosh Ahmadzadeh Mariah R.Baker Margaux Gerbaux Mathijs Willemsen John S.Barber Irina I.Serysheva Liesbeth De Waele François Vermeulen Susan Schlenner Isabelle Meyts David I.Yule Geert Bultynck Rik Schrijvers stephanie humblet-baron Adrian Liston VIB Center for Brain and Disease Research Leuven Belgium (GRID:grid.511015.1) KU Leuven Department of Microbiology and Immunology Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) VIB Center for Brain and Disease Research Leuven Belgium (GRID:grid.511015.1) KU Leuven Department of Microbiology and Immunology Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) UZ Leuven Leuven Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338) University of Rochester Department of Pharmacology and Physiology Rochester USA (GRID:grid.16416.34) (ISNI:0000 0004 1936 9174) KU Leuven Department of Microbiology and Immunology Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) UZ Leuven Leuven Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338) Leuven Kankerinstituut KU Leuven Laboratory of Molecular and Cellular Signaling Department of Cellular and Molecular Medicine Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) Rega Institute KU Leuven Laboratory of Immunobiology Department Microbiology and Immunology Leuven Belgium (GRID:grid.415751.3) McGovern Medical School at The University of Texas Health Science Center at Houston Department of Biochemistry and Molecular Biology Structural Biology Imaging Center Houston USA (GRID:grid.267308.8) (ISNI:0000 0000 9206 2401) KU Leuven Department of Microbiology and Immunology Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) Academic Children Hospital Queen Fabiola Université Libre de Bruxelles Pediatric Department Brussels Belgium (GRID:grid.4989.c) (ISNI:0000 0001 2348 0746) University Hospitals Leuven Department of Pediatric Neurology Leuven Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338) University Hospitals Leuven Department of Pulmonology Leuven Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338) KU Leuven Department of Microbiology and Immunology Leuven Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) UZ Leuven Leuven Belgium (GRID:grid.410569.f) (ISNI:0000 0004

In this article the statement in the Acknowledgements section was incorrectly given as “MRB and IIS are supported by the NIH R01GM080139 grant (to IIS), the Welch Foundation Research Grant AU-2014-20190331 (to IIS), and the American Heart Association grant 18CDA34110086 (to MRB)” and should have been, “MRB and IIS are supported by the NIH R01GM072804 grant (to IIS), the Welch Foundation Research Grant AU-2014-20190331 (to IIS), and the American Heart Association grant 18CDA34110086 (to MRB).”

关键词： IIS statement knowledge

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Disrupted Ca^(2+) h homeostasis and immunodeficiency in patients with functional IP_(3) receptor subtype 3 defects

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Cellular & Molecular Immunology 2023年第1期20卷 11-25页

Calcium signaling is essential for lymphocyte activation, with genetic disruptions of store-operated calcium (Ca^(2+)) entry resulting in severe immunodeficiency. The inositol 1,4,5-trisphosphate receptor (IP_(3)R), a homo- or heterotetramer of the IP_(3)R1-3 isoforms, amplifies lymphocyte signaling by releasing Ca^(2+) from endoplasmic reticulum stores following antigen stimulation. Although knockout of all IP_(3)R isoforms in mice causes immunodeficiency, the seeming redundancy of the isoforms is thought to explain the absence of variants in human immunodeficiency. In this study, we identified compound heterozygous variants of ITPR3 (a gene encoding IP_(3)R subtype 3) in two unrelated Caucasian patients presenting with immunodeficiency. To determine whether ITPR3 variants act in a nonredundant manner and disrupt human immune responses, we characterized the Ca^(2+) signaling capacity, the lymphocyte response, and the clinical phenotype of these patients. We observed disrupted Ca^(2+) signaling in patient-derived fibroblasts and immune cells, with abnormal proliferation and activation responses following T-cell receptor stimulation. Reconstitution of IP_(3)R3 in IP_(3)R knockout cell lines led to the identification of variants as functional hypomorphs that showed reduced ability to discriminate between homeostatic and induced states, validating a genotype–phenotype link. These results demonstrate a functional link between defective endoplasmic reticulum Ca^(2+) channels and immunodeficiency and identify IP_(3)Rs as diagnostic targets for patients with specific inborn errors of immunity. These results also extend the known cause of Ca^(2+)-associated immunodeficiency from store-operated entry to impaired Ca^(2+) mobilization from the endoplasmic reticulum, revealing a broad sensitivity of lymphocytes to genetic defects in Ca^(2+) signaling.

关键词： Primary immunodeficiency Calcium signalling Whole exome sequencing

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