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Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function.

Autor: Briones AC; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Megino RF; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Marin AV; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Chacón-Arguedas D; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., García-Martinez E; Department of Immunology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Balastegui-Martín H; Department of Immunology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Reyburn HT; Department of Immunology and Oncology, National Centre for Biotechnology, Spanish National Research Council (CNB-CSIC), Madrid, Spain., Henrickson SE; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Microbiology and Institute of Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa., Rodríguez-Sainz C; Department of Immunology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Seoane-Reula E; Pediatric Immunodeficiency Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Sanchez-Mateos P; Department of Immunology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Cardenas PP; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Regueiro JR; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Electronic address: regueiro@ucm.es.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Oct; Vol. 154 (4), pp. 1022-1032. Date of Electronic Publication: 2024 Jul 09.

The role of the different CD3γ domains in TCR expression and signaling.

Autor: Garcillán B; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Megino RF; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Herrero-Alonso M; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Guardo AC; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Perez-Flores V; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Juraske C; Signaling Research Centers BIOSS and CIBSS, University of Freiburg, Freiburg, Germany.; Department of Immunology, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Centre for Chronic Immunodeficiency (CCI), Medical Center Freiburg and Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Spemann Graduate School of Biology and Medicine (SGBM), University of Freiburg, Freiburg, Germany., Idstein V; Signaling Research Centers BIOSS and CIBSS, University of Freiburg, Freiburg, Germany.; Department of Immunology, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Centre for Chronic Immunodeficiency (CCI), Medical Center Freiburg and Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Spemann Graduate School of Biology and Medicine (SGBM), University of Freiburg, Freiburg, Germany., Martin-Fernandez JM; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Geisler C; The LEO Foundation Skin Immunology Research Center, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Schamel WWA; Signaling Research Centers BIOSS and CIBSS, University of Freiburg, Freiburg, Germany.; Department of Immunology, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Centre for Chronic Immunodeficiency (CCI), Medical Center Freiburg and Faculty of Medicine, University of Freiburg, Freiburg, Germany., Marin AV; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Regueiro JR; Department of Immunology, Ophthalmology and Ear, Nose and Throat (ENT), Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.

Publikováno v: Frontiers in immunology [Front Immunol] 2022 Sep 02; Vol. 13, pp. 978658. Date of Electronic Publication: 2022 Sep 02 (Print Publication: 2022).

The CD38/NAD/SIRTUIN1/EZH2 Axis Mitigates Cytotoxic CD8 T Cell Function and Identifies Patients with SLE Prone to Infections.

Autor: Katsuyama E; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Suarez-Fueyo A; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Bradley SJ; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Mizui M; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Marin AV; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Mulki L; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Krishfield S; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Malavasi F; Laboratory of Immunogenetics, Department of Genetics, Biology and Biochemistry, University of Torino, and Fondazione Ricerca Molinette, Torino, Italy., Yoon J; Harvard Chan Bioinformatics Core, Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Sui SJH; Harvard Chan Bioinformatics Core, Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Kyttaris VC; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Tsokos GC; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. Electronic address: gtsokos@bidmc.harvard.edu.

Publikováno v: Cell reports [Cell Rep] 2020 Jan 07; Vol. 30 (1), pp. 112-123.e4.

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.

Autor: Bravo García-Morato M; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org., Aracil Santos FJ; Department of Pediatrics, Hospital Universitario La Paz, Madrid, Spain., Briones AC; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Blázquez Moreno A; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain., Del Pozo Maté Á; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain., Domínguez-Soto Á; Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain., Beato Merino MJ; Department of Pathologic Anatomy, Hospital Universitario La Paz, Madrid, Spain., Del Pino Molina L; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain., Torres Canizales J; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain., Marin AV; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Vallespín García E; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain., Feito Rodríguez M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Plaza López Sabando D; Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain., Jiménez-Reinoso A; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Mozo Del Castillo Y; Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain., Sanz Santaeufemia FJ; Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain., de Lucas-Laguna R; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Cárdenas PP; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Casamayor Polo L; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain., Coronel Díaz M; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain., Valés-Gómez M; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain., Roldán Santiago E; Department of Immunology, Hospital Universitario Ramón y Cajal, Madrid, Spain., Ferreira Cerdán A; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain., Nevado Blanco J; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain., Corbí ÁL; Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain., Reyburn HT; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain., Regueiro JR; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., López-Granados E; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain., Rodríguez Pena R; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2018 May; Vol. 141 (5), pp. 1924-1927.e18. Date of Electronic Publication: 2018 Mar 02.