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Mutation of an L-Type Calcium Channel Gene Leads to a Novel Human Primary Cellular Immunodeficiency

https://doi.org/10.1101/864280
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Outgoing claims: the papers this work cites, builds on, or argues with.

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CD3 antigen‐mediated calcium signals and protein kinase C activation are higher in CD45R0+ than in CD45RA+ human T lymphocyte subsets
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Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings
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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
inferredcites →https://doi.org/10.1007/s10875-015-0201-1openalex-snapshot
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
inferredcites →https://doi.org/10.1007/s10875-017-0465-8openalex-snapshot
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
inferredcites →https://doi.org/10.1016/j.ajhg.2017.06.004openalex-snapshot
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health
inferredcites →https://doi.org/10.1016/j.ajo.2011.06.018openalex-snapshot
Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison With Retinitis Pigmentosa
inferredcites →https://doi.org/10.1016/j.cell.2015.10.054openalex-snapshot
SnapShot: T Cell Exhaustion
inferredcites →https://doi.org/10.1016/j.immuni.2011.07.011openalex-snapshot
The CaV1.4 Calcium Channel Is a Critical Regulator of T Cell Receptor Signaling and Naive T Cell Homeostasis
inferredcites →https://doi.org/10.1016/j.immuni.2018.04.026openalex-snapshot
Epigenomic-Guided Mass Cytometry Profiling Reveals Disease-Specific Features of Exhausted CD8 T Cells
inferredcites →https://doi.org/10.1016/j.jaci.2009.10.007openalex-snapshot
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
inferredcites →https://doi.org/10.1016/j.jaci.2015.08.051openalex-snapshot
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
inferredcites →https://doi.org/10.1016/j.molimm.2005.01.014openalex-snapshot
Molecular characterization of L-type calcium channel splice variants expressed in human T lymphocytes
inferredcites →https://doi.org/10.1016/s0021-9258(18)31639-9openalex-snapshot
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency.
inferredcites →https://doi.org/10.1038/86318openalex-snapshot
Gene regulation mediated by calcium signals in T lymphocytes
inferredcites →https://doi.org/10.1038/nature04702openalex-snapshot
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
inferredcites →https://doi.org/10.1038/ni.1793openalex-snapshot
Defective survival of naive CD8+ T lymphocytes in the absence of the β3 regulatory subunit of voltage-gated calcium channels
inferredcites →https://doi.org/10.1038/nri3803openalex-snapshot
A brief history of T cell help to B cells
inferredcites →https://doi.org/10.1038/nri3862openalex-snapshot
Molecular and cellular insights into T cell exhaustion
inferredcites →https://doi.org/10.1056/nejmoa0900082openalex-snapshot
STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
inferredcites →https://doi.org/10.1073/pnas.0607262103openalex-snapshot
Critical role for the β regulatory subunits of Cav channels in T lymphocyte function
inferredcites →https://doi.org/10.1074/jbc.m111.268722openalex-snapshot
Alternative Splicing at C Terminus of CaV1.4 Calcium Channel Modulates Calcium-dependent Inactivation, Activation Potential, and Current Density
inferredcites →https://doi.org/10.1074/jbc.m309268200openalex-snapshot
Identification and Functional Characterization of Voltage-dependent Calcium Channels in T Lymphocytes
inferredcites →https://doi.org/10.1093/hmg/ddi336openalex-snapshot
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
inferredcites →https://doi.org/10.1093/intimm/dxl051openalex-snapshot
CD21 and CD62L shedding are both inducible via P2X7Rs
inferredcites →https://doi.org/10.1146/annurev.immunol.021908.132706openalex-snapshot
T Cell Activation
inferredcites →https://doi.org/10.1146/annurev.immunol.22.012703.104702openalex-snapshot
Central Memory and Effector Memory T Cell Subsets: Function, Generation, and Maintenance
inferredcites →https://doi.org/10.1182/blood.v85.4.1053.bloodjournal8541053openalex-snapshot
A primary T-cell immunodeficiency associated with defective transmembrane calcium influx
inferredcites →https://doi.org/10.1182/blood.v92.3.946openalex-snapshot
Adenosine Triphosphate–Induced Shedding of CD23 and L-Selectin (CD62L) From Lymphocytes Is Mediated by the Same Receptor but Different Metalloproteases
inferredcites →https://doi.org/10.1371/journal.pone.0030852openalex-snapshot
Extended Co-Expression of Inhibitory Receptors by Human CD8 T-Cells Depending on Differentiation, Antigen-Specificity and Anatomical Localization
inferredcites →https://doi.org/10.1371/journal.ppat.1004251openalex-snapshot
T-bet and Eomes Are Differentially Linked to the Exhausted Phenotype of CD8+ T Cells in HIV Infection
inferredcites →https://doi.org/10.3389/fimmu.2013.00164openalex-snapshot
Weft, Warp, and Weave: The Intricate Tapestry of Calcium Channels Regulating T Lymphocyte Function
inferredcites →https://doi.org/10.3389/fimmu.2013.00243openalex-snapshot
Emerging Roles of L-Type Voltage-Gated and Other Calcium Channels in T Lymphocytes
inferredcites →https://doi.org/10.3389/fimmu.2013.00455openalex-snapshot
Inhibitory Receptor Expression Depends More Dominantly on Differentiation and Activation than “Exhaustion” of Human CD8 T Cells
inferredcites →https://doi.org/10.3389/fimmu.2015.00234openalex-snapshot
Tweeters, Woofers and Horns: The Complex Orchestration of Calcium Currents in T Lymphocytes
inferredcites →https://doi.org/10.3389/fimmu.2015.00310openalex-snapshot
Inhibitory Receptors Beyond T Cell Exhaustion
inferredcites →https://doi.org/10.3389/fimmu.2019.02473openalex-snapshot
Mutation of an L-Type Calcium Channel Gene Leads to T Lymphocyte Dysfunction
inferredcites →https://doi.org/10.3390/cancers8030036openalex-snapshot
Different Subsets of T Cells, Memory, Effector Functions, and CAR-T Immunotherapy
inferredcites →https://doi.org/10.4049/jimmunol.1001783openalex-snapshot
Phenotype, Function, and Gene Expression Profiles of Programmed Death-1hi CD8 T Cells in Healthy Human Adults
inferredcites →https://doi.org/10.4049/jimmunol.1800837openalex-snapshot
What’s Bred in the Bone: Calcium Channels in Lymphocytes
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