NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

[1]  V. Lougaris,et al.  Therapeutic options for CTLA-4 Insufficiency. , 2021, The Journal of allergy and clinical immunology.

[2]  Kathleen M. Jagodnik,et al.  Gene Set Knowledge Discovery with Enrichr , 2021, Current protocols.

[3]  F. Rieux-Laucat,et al.  A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis , 2021, bioRxiv.

[4]  W. Ouwehand,et al.  Neutrophil specific granule and NETosis defects in gray platelet syndrome. , 2021, Blood advances.

[5]  A. Nile,et al.  Role of adaptin protein complexes in intracellular trafficking and their impact on diseases , 2021, Bioengineered.

[6]  H. Simon,et al.  Mechanisms of toxicity mediated by neutrophil and eosinophil granule proteins. , 2020, Allergology international : official journal of the Japanese Society of Allergology.

[7]  P. Nurden,et al.  Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation , 2020, Platelets.

[8]  W. Kahr,et al.  The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. , 2020, Blood.

[9]  William J. Astle,et al.  Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome , 2020, medRxiv.

[10]  Helmut Krcmar,et al.  ProteomicsDB: a multi-omics and multi-organism resource for life science research , 2019, Nucleic Acids Res..

[11]  J. Orange,et al.  Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis , 2019, Nature Communications.

[12]  R. Hertzano,et al.  NK cell expression of Tim-3: First impressions matter. , 2019, Immunobiology.

[13]  Damian Szklarczyk,et al.  STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets , 2018, Nucleic Acids Res..

[14]  O. Garraud,et al.  Platelet α‐granules modulate the inflammatory response under systemic lipopolysaccharide injection in mice , 2018, Transfusion.

[15]  M. Carcao,et al.  NBEAL2 mutations and bleeding in patients with gray platelet syndrome , 2018, Platelets.

[16]  R. V. van Lier,et al.  Proteomic Analyses of Human Regulatory T Cells Reveal Adaptations in Signaling Pathways that Protect Cellular Identity , 2018, Immunity.

[17]  William J. Astle,et al.  Nbeal2 interacts with Dock7, Sec16a, and Vac14. , 2018, Blood.

[18]  D. Sansom,et al.  CTLA-4: a moving target in immunotherapy. , 2018, Blood.

[19]  U. Abdel-Motal,et al.  Lessons from CTLA-4 deficiency and checkpoint inhibition. , 2017, Current opinion in immunology.

[20]  Andrew D. Rouillard,et al.  Enrichr: a comprehensive gene set enrichment analysis web server 2016 update , 2016, Nucleic Acids Res..

[21]  J. Mesirov,et al.  The Molecular Signatures Database Hallmark Gene Set Collection , 2015 .

[22]  U. Pannicke,et al.  Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. , 2015, Blood.

[23]  J. Hughes,et al.  Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy , 2015, Science.

[24]  R. Vale,et al.  HkRP3 Is a Microtubule-Binding Protein Regulating Lytic Granule Clustering and NK Cell Killing , 2015, The Journal of Immunology.

[25]  A. Schäffer,et al.  Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations , 2014, Nature Medicine.

[26]  J. B. Oliveira,et al.  Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 , 2014, Science.

[27]  B. Kuster,et al.  Mass-spectrometry-based draft of the human proteome , 2014, Nature.

[28]  C. Hawkins,et al.  Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice. , 2013, Blood.

[29]  A. Schäffer,et al.  The BEACH Is Hot: A LYST of Emerging Roles for BEACH‐Domain Containing Proteins in Human Disease , 2013, Traffic.

[30]  P. Nurden,et al.  The Nbeal2−/− mouse as a model for the gray platelet syndrome , 2013, Rare diseases.

[31]  J. Parkinson,et al.  Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome , 2011, Nature Genetics.

[32]  Gregory E. Jordan,et al.  Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome , 2011, Nature Genetics.

[33]  J. Mullikin,et al.  NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules , 2011, Nature Genetics.

[34]  H. Schneider,et al.  CTLA-4 trafficking and surface expression. , 2008, Trends in immunology.

[35]  Pablo Tamayo,et al.  Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[36]  J. Tschopp,et al.  Conversion of Membrane-bound Fas(CD95) Ligand to Its Soluble Form Is Associated with Downregulation of Its Proapoptotic Activity and Loss of Liver Toxicity , 1998, The Journal of experimental medicine.

[37]  J. Bluestone,et al.  Regulation of CTLA-4 expression during T cell activation. , 1996, Journal of immunology.

[38]  L. Lanier,et al.  Natural killer or dendritic: what's in a name? , 2007, Immunity.