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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
Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2... 
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) | ADA2 DEFICIENCY | RECEPTOR | IMMUNOLOGY | CECR1 | TUMOR-NECROSIS-FACTOR | DISEASE | POLYARTERITIS-NODOSA | GROWTH-FACTOR | MUTATIONS | STEM-CELL TRANSPLANTATION | Stroke (Disease) | Medical research | Adenosine | Medicine, Experimental | Genetic aspects | Transplantation | Macrophages | Hematopoietic stem cells | Stem cell transplantation | Hypogammaglobulinemia | Hemorrhage | Vascular diseases | Ischemia | Intestine | Dimerization | Age | Thrombocytopenia | Myeloid cells | Hematology | Secretion | Inflammation | Adenosine deaminase | Patients | Hemopoiesis | Monocytes | Aplasia | Tumor necrosis factor | Mutation | CME Review
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2. 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
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate... 
ENCODING MEVALONATE KINASE | AICARDI-GOUTIERES-SYNDROME | CYCLIC GMP-AMP | FAMILIAL MEDITERRANEAN FEVER | FACTOR-H POLYMORPHISM | OF-FUNCTION MUTATIONS | NLRP3 INFLAMMASOME | IMMUNOLOGY | NF-KAPPA-B | RILONACEPT INTERLEUKIN-1 TRAP | PYRIN INFLAMMASOME | 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 | Immunology | Pathways | Protein folding | Interferon | Immune system
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3. 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
Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system.... 
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) | INTERLEUKIN-1 | ACTIVATION | CONGENITAL SIDEROBLASTIC ANEMIA | GENOMEWIDE ASSOCIATION | IMMUNOLOGY | PATHOLOGY | NLRC4 CAUSES | ADENOSINE-DEAMINASE 2 | MUTATION | GROWTH-FACTOR | VASCULOPATHY | IMMUNODEFICIENCY | 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 | Enzymes | Biological response modifiers | Comorbidity | Genomics | Transfer RNA
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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, p. 399
Autoinflammatory diseases are caused by defects in genes that regulate the innate immunity. Recently, the scope of autoinflammation has been broadened to... 
Otulipenia/otulin-related autoinflammatory syndrome | LUBAC deficiency | TNFAIP3/A20 | Linear ubiquitin chain assembly complex | OTULIN | Haploinsufficiency of A20 | LINEAR UBIQUITINATION | IMMUNOLOGY | otulipenia/otulin-related autoinflammatory syndrome | POLYMORPHISMS | TNFAIP3 REGION | haploinsufficiency of A20 | INFLAMMATION | linear ubiquitin chain assembly complex | CHAINS | MUTATIONS | ASSOCIATION | IMMUNODEFICIENCY | A20
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5. 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
Systemic autoinflammatory diseases are caused by abnormal activation of the cells that mediate innate immunity. In the past two decades, single-gene defects in... 
TNF RECEPTOR | ENCODING MEVALONATE KINASE | PERIODIC SYNDROME | ADENOSINE-DEAMINASE ACTIVITY | THIOREDOXIN-INTERACTING PROTEIN | ENDOPLASMIC-RETICULUM STRESS | ANKYLOSING-SPONDYLITIS | NLRP3 INFLAMMASOME | GROWTH-FACTOR | RHEUMATOLOGY | TRANSCRIPTION FACTOR | 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
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6. Full Text Genetics of monogenic autoinflammatory diseases: Past successes, future challenges
by Aksentijevich, Ivona and Kastner, Daniel L
Nature Reviews Rheumatology, ISSN 1759-4790, 08/2011, Volume 7, Issue 8, pp. 469 - 478
The term autoinflammation was initially coined to distinguish disorders characterized by recurrent episodes of inflammation in the absence of high-titer... 
TNF RECEPTOR | ENCODING MEVALONATE KINASE | FAMILIAL MEDITERRANEAN FEVER | HYPER-IGD | HYPERIMMUNOGLOBULINEMIA-D | MUCKLE-WELLS-SYNDROME | RHEUMATOLOGY | PERIODIC FEVER | CIAS1 MUTATIONS | MULTISYSTEM INFLAMMATORY DISEASE | GENOME-WIDE ASSOCIATION | Autoimmune Diseases - genetics | Genome-Wide Association Study | Humans | Autoimmune Diseases - immunology | Inflammation - genetics | Immunogenetic Phenomena - physiology | Inflammation - immunology | Usage | Care and treatment | Autoantibodies | Physiological aspects | Inflammation | Genetic aspects | Familial Mediterranean fever | Research | Diagnosis | Genetic screening | Risk factors
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7. Full Text Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease
by Beck, David B and Aksentijevich, Ivona
Frontiers in immunology, ISSN 1664-3224, 2019, Volume 10, p. 101
Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In... 
enzyme deficiency | mutations | innate immunity | ubiquitination | protein homeostasis | autoinflammation | metabolic sensors | PHOSPHOLIPASE C-GAMMA-2 | MEVALONATE KINASE-DEFICIENCY | CONGENITAL SIDEROBLASTIC ANEMIA | INFLAMMASOME ACTIVATION | HYPOMORPHIC MUTATIONS | NLRP3 INFLAMMASOME | IMMUNOLOGY | ADENOSINE-DEAMINASE 2 | CCA-ADDING ENZYME | B-CELL IMMUNODEFICIENCY | MISSENSE MUTATION | Biochemistry | Cellular signal transduction | Immune response | Research | Autoimmune diseases | Analysis
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8. Full Text Corrigendum: 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, 10/2017, Volume 18, Issue 11, p. 1271
This corrects the article DOI: 10.1038/ni.3777. 
Colchicine | Immunity
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9. Full Text Autoinflammatory Disease Reloaded: A Clinical Perspective
by Kastner, Daniel L and Aksentijevich, Ivona and Goldbach-Mansky, Raphaela
Cell, ISSN 0092-8674, 2010, Volume 140, Issue 6, pp. 784 - 790
Our understanding of the etiology of autoinflammatory disease is growing rapidly. Recent advances offer new opportunities for therapeutic intervention and... 
ACTIVATION | PROTEIN | INHIBITION | FAMILIAL MEDITERRANEAN FEVER | INTERLEUKIN-1-BETA | BIOCHEMISTRY & MOLECULAR BIOLOGY | B30.2 DOMAIN | MUTATIONS | CIAS1 | NALP3 INFLAMMASOME | PYRIN | CELL BIOLOGY | Animals | Autoantibodies | Humans | Autoimmune Diseases - immunology | Hereditary Autoinflammatory Diseases - immunology | Hereditary Autoinflammatory Diseases - physiopathology | Hereditary Autoinflammatory Diseases - drug therapy | Cytokines - immunology | Etiology
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10. Full Text Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
by Zhou, Qing and Wang, Hongying and Schwartz, Daniella M and Stoffels, Monique and Hwan Park, Yong and Zhang, Yuan and Yang, Dan and Demirkaya, Erkan and Takeuchi, Masaki and Tsai, Wanxia Li and Lyons, Jonathan J and Yu, Xiaomin and Ouyang, Claudia and Chen, Celeste and Chin, David T and Zaal, Kristien and Chandrasekharappa, Settara C and Hanson, Eric P and Yu, Zhen and Mullikin, James C and Hasni, Sarfaraz A and Wertz, Ingrid E and Ombrello, Amanda K and Stone, Deborah L and Hoffmann, Patrycja and Jones, Anne and Barham, Beverly K and Leavis, Helen L and Van Royen-Kerkof, Annet and Sibley, Cailin and Batu, Ezgi D and Gül, Ahmet and Siegel, Richard M and Boehm, Manfred and Milner, Joshua D and Ozen, Seza and Gadina, Massimo and Chae, JaeJin and Laxer, Ronald M and Kastner, Daniel L and Aksentijevich, Ivona
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 48, Issue 1, pp. 67 - 73
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance... 
RNA-Binding Proteins - genetics | Humans | Male | NF-kappa B - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | I-kappa B Proteins - metabolism | I-kappa B Proteins - genetics | DNA-Binding Proteins - metabolism | Nuclear Pore Complex Proteins - genetics | Hereditary Autoinflammatory Diseases - metabolism | I-kappa B Kinase - metabolism | Female | Tumor Necrosis Factor alpha-Induced Protein 3 | TNF Receptor-Associated Factor 6 - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Haploinsufficiency - genetics | NF-KappaB Inhibitor alpha | Nuclear Pore Complex Proteins - metabolism | Nuclear Proteins - metabolism | I-kappa B Kinase - genetics | DNA-Binding Proteins - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | TNF Receptor-Associated Factor 6 - metabolism | Mutation | RNA-Binding Proteins - metabolism | Hereditary Autoinflammatory Diseases - genetics | Studies | Tumor necrosis factor-TNF | Kinases
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11. Full Text Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
by Masters, Seth L and Simon, Anna and Aksentijevich, Ivona and Kastner, Daniel L
Annual Review of Immunology, ISSN 0732-0582, 2009, Volume 27, Issue 1, pp. 621 - 668
The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T... 
Pulmonary fibrosis | Atherosclerosis | Innate immunity | Crohn's disease | Inflammasome | Type 2 diabetes mellitus | IL-1β | Ankylosing spondylitis | atherosclerosis | HEMOLYTIC-UREMIC SYNDROME | INTERLEUKIN-1 RECEPTOR ANTAGONIST | ankylosing spondylitis | JUVENILE IDIOPATHIC ARTHRITIS | IL-1 beta | INNATE IMMUNE-SYSTEM | ENDOPLASMIC-RETICULUM STRESS | IMMUNOLOGY | ENCODING MEVALONATE KINASE | UNFOLDED PROTEIN RESPONSE | innate immunity | FAMILIAL MEDITERRANEAN FEVER | inflammasome | MACROPHAGE ACTIVATION SYNDROME | pulmonary fibrosis | type 2 diabetes mellitus | NF-KAPPA-B | Tumor Necrosis Factor-alpha - metabolism | Phosphotransferases (Alcohol Group Acceptor) - immunology | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Tumor Necrosis Factor-alpha - genetics | NF-kappa B - immunology | NF-kappa B - metabolism | Interleukin-1beta - genetics | Autoimmune Diseases - genetics | Interleukin-1beta - metabolism | Tumor Necrosis Factor-alpha - immunology | Cytokines - genetics | Carrier Proteins - immunology | Cytokines - immunology | Autoimmune Diseases - classification | Cytokines - metabolism | Autoimmune Diseases - immunology | Interleukin-1beta - immunology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Inflammation - immunology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | NF-kappa B - genetics | Inflammation - classification | Inflammation - genetics | Crohn’s disease
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