Detrimental

DNA HEK293 Cells Humans Mutation, Missense NF-kappa B / metabolism NF-kappa B p50 Subunit / genetics Promoter Regions, Genetic Proto-Oncogene Proteins c-rel / metabolism
NF-kappaB signaling pathway NFKB1 common variable immunodeficiency (CVID) inborn errors of immunity (IEI) primary immunodeficiency

Journal

Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960

Informations de publication

Date de publication:
2022
Historique:
received: 09 06 2022
accepted: 29 07 2022
entrez: 15 9 2022
pubmed: 16 9 2022
medline: 17 9 2022
Statut: epublish

Résumé

Most of the currently known heterozygous pathogenic

Identifiants

DOI: 10.3389/fimmu.2022.965326 PMID: 36105815 PMC: PMC9465457
pubmed: 36105815
doi: 10.3389/fimmu.2022.965326
pmc: PMC9465457
doi:

Substances chimiques

NF-kappa B 0
NF-kappa B p50 Subunit 0
NFKB1 protein, human 0
Proto-Oncogene Proteins c-rel 0
DNA 9007-49-2

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

965326

Informations de copyright

Copyright © 2022 Fliegauf, Kinnunen, Posadas-Cantera, Camacho-Ordonez, Abolhassani, Alsina, Atschekzei, Bogaert, Burns, Church, Dückers, Freeman, Hammarström, Hanitsch, Kerre, Kobbe, Sharapova, Siepermann, Speckmann, Steiner, Verma, Walter, Westermann-Clark, Goldacker, Warnatz, Varjosalo and Grimbacher.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

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Auteurs

Manfred Fliegauf (M)

Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
CIBSS - Centre for Integrative Biological Signalling Studies, Freiburg, Germany.

Matias Kinnunen (M)

Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

Sara Posadas-Cantera (S)

Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Nadezhda Camacho-Ordonez (N)

Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Faculty of Biology, University of Freiburg, Freiburg, Germany.

Hassan Abolhassani (H)

Department of Biosciences and Nutrition, NEO, Karolinska Institutet, Huddinge, Sweden.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Laia Alsina (L)

Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Department of Surgery and Surgical Specializations, Facultat de Medicina i Ciències de la Salut, Barcelona, Spain.

Faranaz Atschekzei (F)

RESIST - Cluster of Excellence 2155 to Hanover Medical School , Satellite Center Freiburg, Freiburg, Germany.
Department for Clinical Immunology and Rheumatology, Hannover Medical School, Hanover, Germany.

Delfien J Bogaert (DJ)

Department of Pediatrics, Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.

Siobhan O Burns (SO)

Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
Institute of Immunity and Transplantation, University College London, London, United Kingdom.

Joseph A Church (JA)

Department of Pediatrics, Keck School of Medicine, University of Southern California and Children's Hospital Los Angeles, Los Angeles, CA, United States.

Gregor Dückers (G)

HELIOS Children's Hospital, Krefeld, Germany.

Alexandra F Freeman (AF)

Laboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.

Lennart Hammarström (L)

Department of Biosciences and Nutrition, NEO, Karolinska Institutet, Huddinge, Sweden.

Leif Gunnar Hanitsch (LG)

Department of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Tessa Kerre (T)

Department of Hematology, Ghent University Hospital, Ghent, Belgium.

Robin Kobbe (R)

Institute for Infection Research and Vaccine Development (IIRVD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Svetlana O Sharapova (SO)

Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.

Kathrin Siepermann (K)

HELIOS Children's Hospital, Krefeld, Germany.

Carsten Speckmann (C)

Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Sophie Steiner (S)

Department of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Nisha Verma (N)

Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.

Jolan E Walter (JE)

Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Division of Allergy/Immunology, Department of Pediatrics Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA, United States.

Emma Westermann-Clark (E)

Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Division of Allergy and Immunology, Department of Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.

Sigune Goldacker (S)

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Klaus Warnatz (K)

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Markku Varjosalo (M)

Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Proteomics Unit, University of Helsinki, Helsinki, Finland.

Bodo Grimbacher (B)

Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
CIBSS - Centre for Integrative Biological Signalling Studies, Freiburg, Germany.
RESIST - Cluster of Excellence 2155 to Hanover Medical School , Satellite Center Freiburg, Freiburg, Germany.
DZIF - German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany.

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Classifications MeSH

questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › Detrimental
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › Detrimental
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Detrimental
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Detrimental
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Detrimental
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Sous-unité p50 de NF-kappa B › Detrimental
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) › Detrimental
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines proto-oncogènes c-rel › Detrimental