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1. Full Text Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
by Meyts, Isabelle and Aksentijevich, Ivona
Journal of clinical immunology, ISSN 0271-9142, 7/2018, Volume 38, Issue 5, pp. 569 - 578
Medical Microbiology | Adenosine deaminase 2 | DADA2 | vasculitis | immune thrombocytopenia | Internal Medicine | neutropenia | stroke | polyarteritis nodosa (PAN) | Biomedicine | Immunology | Infectious Diseases | pure red cell aplasia (PRCA) | immunodeficiency | Stroke | Vasculitis | Immunodeficiency | Immune thrombocytopenia | Pure red cell aplasia (PRCA) | Neutropenia | Polyarteritis nodosa (PAN) | Life Sciences & Biomedicine | Science & Technology | Stroke (Disease) | Medical research | Adenosine | Medicine, Experimental | Genetic aspects | Transplantation | Macrophages | Hematopoietic stem cells | Stem cell transplantation | Idiopathic thrombocytopenic purpura | Hypogammaglobulinemia | Hemorrhage | Vascular diseases | Ischemia | Intestine | Dimerization | Age | Thrombocytopenia | Myeloid cells | Hematology | Inflammation | Adenosine deaminase | Patients | Hemopoiesis | Monocytes | Aplasia | Tumor necrosis factor | Mutation | Index Medicus | CME Review
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2. Full Text Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years
by Aksentijevich, Ivona
Seminars in immunopathology, ISSN 1863-2297, 7/2015, Volume 37, Issue 4, pp. 395 - 401
Next generation sequencing (NGS) | Deficiency of ADA2 (DADA2) | TRNT1 deficiency/SIFD | Biomedicine | Immunology | Autoinflammation | LACC1-associated monogenic disease | NLRC4-associated inflammatory diseases | Internal Medicine | STING-associated vasculopathy with onset in infancy (SAVI) | Deficiency ofADA2 (DADA2) | Pathology | Life Sciences & Biomedicine | Science & Technology | Calcium-Binding Proteins - metabolism | Genetic Association Studies | Membrane Proteins - genetics | Humans | Transcription Factors - deficiency | Autoimmune Diseases - diagnosis | Hereditary Autoinflammatory Diseases - diagnosis | Hereditary Autoinflammatory Diseases - etiology | Transcription Factors - genetics | Autoimmune Diseases - etiology | Inflammation - etiology | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - metabolism | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Age of Onset | Receptor Activator of Nuclear Factor-kappa B - genetics | Membrane Proteins - metabolism | Inflammation - diagnosis | Receptor Activator of Nuclear Factor-kappa B - metabolism | Calcium-Binding Proteins - genetics | DNA-Binding Proteins | Enzymes | Biological response modifiers | Comorbidity | Genomics | Transfer RNA | Index Medicus
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3. Full Text The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
by Manthiram, Kalpana and Zhou, Qing and Aksentijevich, Ivona and Kastner, Daniel L
Nature immunology, ISSN 1529-2908, 07/2017, Volume 18, Issue 8, pp. 832 - 842
Life Sciences & Biomedicine | Immunology | Science & Technology | Signal Transduction | Humans | Hereditary Autoinflammatory Diseases - immunology | NF-kappa B - immunology | Interleukin-1beta - immunology | Inflammation - immunology | Ubiquitination - immunology | Complement Activation - immunology | Interferon Type I - immunology | Protein Folding | Immunity, Innate - immunology | Autoimmunity - immunology | Inflammasomes - immunology | Immunologic Deficiency Syndromes - immunology | Cytokines - immunology | Hereditary Autoinflammatory Diseases - genetics | Transcription factors | Immune response | Development and progression | Genetic aspects | Cellular signal transduction | Inflammation | Health aspects | NF-κB protein | Cytokines | Immunodeficiency | Disorders | Innate immunity | IL-1β | Immunity | Fever | Diseases | Proteins | Signal transduction | Signaling | Ubiquitination | Complement activation | Molecular modelling | Pathways | Protein folding | Interferon | Immune system | Index Medicus
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4. Full Text NF-κB pathway in autoinflammatory diseases: Dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases
by Aksentijevich, Ivona and Zhou, Qing
Frontiers in immunology, ISSN 1664-3224, 04/2017, Volume 8, pp. 399 - 399
Otulipenia/otulin-related autoinflammatory syndrome | LUBAC deficiency | TNFAIP3/A20 | Linear ubiquitin chain assembly complex | OTULIN | Haploinsufficiency of A20 | Life Sciences & Biomedicine | Immunology | Science & Technology | linear ubiquitin chain assembly complex | haploinsufficiency of A20 | otulipenia/otulin-related autoinflammatory syndrome
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5. Full Text Mendelian diseases of dysregulated canonical NF‐κB signaling: From immunodeficiency to inflammation
by Schnappauf, Oskar and Aksentijevich, Ivona
Journal of leukocyte biology, ISSN 0741-5400, 08/2020, Volume 108, Issue 2, pp. 573 - 589
atopy | autoinflammation | immunodeficiency | NF‐κB | autoimmunity | ubiquitination | Immunology | Life Sciences & Biomedicine | Hematology | Science & Technology | Cell Biology | Immunologic Deficiency Syndromes - pathology | Inflammation - pathology | Genetic Predisposition to Disease | Immunologic Deficiency Syndromes - etiology | Signal Transduction | Humans | Gene Expression Regulation | NF-kappa B - metabolism | Inflammation - etiology | Inflammation - metabolism | Animals | Biomarkers | Immunologic Deficiency Syndromes - metabolism | Index Medicus
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6. Full Text Susceptibility to severe COVID-19
by Beck, David B and Aksentijevich, Ivona
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2020, Volume 370, Issue 6515, pp. 404 - 405
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | COVID-19 | Coronavirus Infections | Immune System Diseases - congenital | Genetic Predisposition to Disease | SARS-CoV-2 | Pandemics | Humans | Betacoronavirus | Pneumonia, Viral | Polymorphism, Single Nucleotide | Interferon Type I - immunology | Index Medicus
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7. Full Text Susceptibility to severe COVID-19: Genetic variants and autoantibodies that suppress antiviral immunity are linked to severe COVID-19
by Beck, David B and Aksentijevich, Ivona
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2020, Volume 370, Issue 6515, p. 404
Autoimmunity | Antiviral agents | Medical research | Autoantibodies | Severe acute respiratory syndrome | Medicine, Experimental | Genetic research | Coronaviruses
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8. Full Text New players driving inflammation in monogenic autoinflammatory diseases
by Martinon, Fabio and Aksentijevich, Ivona
Nature reviews. Rheumatology, ISSN 1759-4790, 01/2015, Volume 11, Issue 1, pp. 11 - 20
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Immunity, Innate - immunology | Animals | Humans | Hereditary Autoinflammatory Diseases - immunology | Immunity, Innate - genetics | Homeostasis | Inflammation - genetics | Inflammation - immunology | Mutation | Sequence Analysis, DNA | Hereditary Autoinflammatory Diseases - genetics | Autoimmunity | Care and treatment | B cells | Diagnosis | Autoimmune diseases | Analysis | Index Medicus
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