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Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.

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Title: Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.
Authors: Adelon J; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France. Electronic address: jihane.adelon@gmail.com., Abolhassani H; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Esenboga S; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey., Fouyssac F; Department of Pediatric Oncology, Children's Hospital, Nancy, France., Cagdas D; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey., Tezcan I; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey., Kuskonmaz B; Department of Pediatric Hematology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey., Cetinkaya D; Department of Pediatric Hematology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey., Suarez F; Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, INSERM UMR1163/CNRS URL 8254, Paris, France; French National Center for Primary Immunodeficiencies, Necker University Hospital, AP-HP, Paris, France; INSERM UMR1163, Imagine Institut, Sorbonne Paris Cité, Paris, France; Department of Hematology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; Université Paris Cité, Paris, France., Mahdaviani SA; Pediatric Respiratory Diseases Research Centre, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Plassart S; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France., Mathieu AL; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France., Fabien N; Department of Immunology, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre-Benite, France., Malcus C; Department of Immunology, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France., Morfin-Sherpa F; Laboratoire de Virologie, Institut des Agents Infectieux, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; Laboratoire Virologie et Pathologies humaines (VirPath),Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France., Billaud G; Laboratoire de Virologie, Institut des Agents Infectieux, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France., Tusseau M; Hospices Civils de Lyon, Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France; Service de Génétique, Groupe Hospitalier Est, Hospices Civils de Lyon, Bron, France., Benezech S; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France., Walzer T; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France., De Villartay JP; Laboratory 'Genome Dynamics in the Immune System' INSERM UMR 1163, Imagine Institute, Université de Paris Cité, Paris, France., Bertrand Y; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France., Belot A; Hospices Civils de Lyon, Lyon, France; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France; Department of Pediatrics Nephrology, Rheumatology, and Dermatology, Hôpital Femme-Mère-Enfant, Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Nov; Vol. 154 (5), pp. 1300-1312. Date of Electronic Publication: 2024 Jul 06.
Publication Type: Journal Article; Review
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.
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  Data: <searchLink fieldCode="AU" term="%22Adelon+J%22">Adelon J</searchLink>; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France. Electronic address: jihane.adelon@gmail.com.<br /><searchLink fieldCode="AU" term="%22Abolhassani+H%22">Abolhassani H</searchLink>; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Esenboga+S%22">Esenboga S</searchLink>; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Fouyssac+F%22">Fouyssac F</searchLink>; Department of Pediatric Oncology, Children's Hospital, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Cagdas+D%22">Cagdas D</searchLink>; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Tezcan+I%22">Tezcan I</searchLink>; Department of Pediatric Immunology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kuskonmaz+B%22">Kuskonmaz B</searchLink>; Department of Pediatric Hematology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Cetinkaya+D%22">Cetinkaya D</searchLink>; Department of Pediatric Hematology, Ihsan Dogramacı Children's Hospital, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Suarez+F%22">Suarez F</searchLink>; Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, INSERM UMR1163/CNRS URL 8254, Paris, France; French National Center for Primary Immunodeficiencies, Necker University Hospital, AP-HP, Paris, France; INSERM UMR1163, Imagine Institut, Sorbonne Paris Cité, Paris, France; Department of Hematology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mahdaviani+SA%22">Mahdaviani SA</searchLink>; Pediatric Respiratory Diseases Research Centre, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Plassart+S%22">Plassart S</searchLink>; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mathieu+AL%22">Mathieu AL</searchLink>; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Fabien+N%22">Fabien N</searchLink>; Department of Immunology, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre-Benite, France.<br /><searchLink fieldCode="AU" term="%22Malcus+C%22">Malcus C</searchLink>; Department of Immunology, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Morfin-Sherpa+F%22">Morfin-Sherpa F</searchLink>; Laboratoire de Virologie, Institut des Agents Infectieux, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; Laboratoire Virologie et Pathologies humaines (VirPath),Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Billaud+G%22">Billaud G</searchLink>; Laboratoire de Virologie, Institut des Agents Infectieux, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; Hospices Civils de Lyon, Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France; Service de Génétique, Groupe Hospitalier Est, Hospices Civils de Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Benezech+S%22">Benezech S</searchLink>; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Walzer+T%22">Walzer T</searchLink>; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22De+Villartay+JP%22">De Villartay JP</searchLink>; Laboratory 'Genome Dynamics in the Immune System' INSERM UMR 1163, Imagine Institute, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bertrand+Y%22">Bertrand Y</searchLink>; Department of Pediatric Immunology and Hematology, Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France; Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Belot+A%22">Belot A</searchLink>; Hospices Civils de Lyon, Lyon, France; Centre de Références Maladies Rares, Rhumatismes inflammatoires et les maladies Auto-Immunes Systémiques rares de l'Enfant (RAISE), Lyon, France; Centre International de Recherche en Infectiologie (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM) U1111, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5308, École Normale Supérieure de Lyon, Université Claude Bernard Lyon, Lyon, France; Department of Pediatrics Nephrology, Rheumatology, and Dermatology, Hôpital Femme-Mère-Enfant, Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2024 Nov; Vol. 154 (5), pp. 1300-1312. <i>Date of Electronic Publication: </i>2024 Jul 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mosby%22">Mosby </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>1275002 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-6825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200916749%22">00916749 </searchLink><i>NLM ISO Abbreviation: </i>J Allergy Clin Immunol <i>Subsets: </i>MEDLINE
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