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Clinical and experimental rheumatology, ISSN 0392-856X, 01/2018, Volume 36, Issue 1, pp. 32 - 38
Autoinflammatory diseases (AIDs) encompass a heterogeneous group of disorders pathogenetically related to an abnormal activation of the innate immunity and... 
Pyogenic arthritis | Autoinflammation | Cryopyrin-associated periodic syndromes | Acne | Deficiency of IL-36 receptor antagonist | Deficiency of IL-1 receptor antagonist | Autoinflammatory monogenic syndromes | Pyoderma gangrenosum | pyogenic arthritis | AMICROBIAL PUSTULOSIS | cryopyrin-associated periodic syndromes | autoinflammation | DISORDERS | autoinflammatory monogenic syndromes | RHEUMATOLOGY | PAPA SYNDROME | MATRIX METALLOPROTEINASES | pyoderma gangrenosum | acne | INFLAMMATORY CELLS | PYODERMA-GANGRENOSUM | deficiency of IL-36 receptor antagonist | SKIN | deficiency of IL-1 receptor antagonist | URTICARIAL VASCULITIS | Cryopyrin-Associated Periodic Syndromes - immunology | Interleukin 1 Receptor Antagonist Protein - immunology | Acne Vulgaris - immunology | Humans | Acne Vulgaris - pathology | Hereditary Autoinflammatory Diseases - immunology | Skin Diseases - immunology | Arthritis, Infectious - pathology | Skin Diseases - pathology | Pyoderma Gangrenosum - pathology | Skin Diseases - etiology | Acne Vulgaris - complications | Hereditary Autoinflammatory Diseases - complications | Immunity, Innate - immunology | Arthritis, Infectious - complications | Inflammasomes - immunology | Pyoderma Gangrenosum - complications | Pyoderma Gangrenosum - immunology | Cryopyrin-Associated Periodic Syndromes - pathology | Arthritis, Infectious - immunology | Hereditary Autoinflammatory Diseases - pathology | Cryopyrin-Associated Periodic Syndromes - complications | Cytokines - immunology
Journal Article
Medicina Clinica, ISSN 0025-7753, 01/2018, Volume 150, Issue 2, pp. 67 - 74
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused... 
Adult-onset | Monogenic autoinflammatory diseases | Undifferentiated autoinflammatory diseases
Journal Article
MEDICINA CLINICA, ISSN 0025-7753, 01/2018, Volume 150, Issue 2, pp. 67 - 74
Journal Article
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) | CONGENITAL SIDEROBLASTIC ANEMIA | GENOMEWIDE ASSOCIATION | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | PATHOLOGY | NLRC4 CAUSES | ADENOSINE-DEAMINASE 2 | MUTATION | DEVELOPMENTAL DELAY SIFD | GROWTH-FACTOR | VASCULOPATHY | LEPROSY | 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
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 09/2017, Volume 108, Issue 7, pp. 609 - 619
Monogenic autoinflammatory diseases are a heterogeneous emergent group of conditions that are currently under intensive study. We review the etiopathogenesis... 
Classification | Skin manifestations | Histologic diagnosis | Monogenic autoinflammatory diseases
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3041 - 3052
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 09/2017, Volume 108, Issue 7, pp. 620 - 629
The discovery of new autoinflammatory syndromes and novel mutations has advanced at breakneck speed in recent years. Part 2 of this review focuses on... 
Classification | Skin manifestations | Histologic diagnosis | Monogenic autoinflammatory diseases
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 507 - 518
The stimulator of interferon genes (STING) protein bridges sensors of cytosolic DNA and the inflammatory pathway mediated by interferon-β. Activating mutations... 
MEDICINE, GENERAL & INTERNAL | FAMILIAL CHILBLAIN LUPUS | CYCLIC GMP-AMP | DNA | PROTEASOME SUBUNIT | LIPODYSTROPHY | SENSOR | MONOGENIC AUTOINFLAMMATORY DISEASES | EXPRESSION | I INTERFERON | INBORN-ERRORS | Up-Regulation | Phosphorylation | Humans | Infant | Male | Interferon-gamma - metabolism | Inflammation - metabolism | STAT1 Transcription Factor - metabolism | Skin Diseases, Vascular - genetics | Genes, Dominant | Female | Transcription, Genetic | Interferon-gamma - genetics | Cytokines - genetics | Infant, Newborn | Fibroblasts - metabolism | Skin Diseases, Vascular - metabolism | Cytokines - metabolism | Membrane Proteins - genetics | Sequence Analysis, DNA | Syndrome | Janus Kinases - antagonists & inhibitors | Lung Diseases - genetics | Pedigree | Age of Onset | Inflammation - genetics | Mutation | Pulmonary manifestations of general diseases | Blood circulation disorders | Genetic aspects | Research | Gene mutations | Risk factors | Transcription | Genes | Guanosine | Leukocytes (mononuclear) | Arthritis | Interleukin 6 | Cell activation | Vascular diseases | Lymphocytes | Cyclic GMP | Interleukin 1 | Peripheral blood | Fingers & toes | Fibroblasts | Janus kinase | Skin diseases | Children | Stat1 protein | Age | Deoxyribonucleic acid--DNA | Phenotypes | AMP | Patients | Endothelial cells | Studies | Biopsy | Ligands | Interferon | Autoimmune diseases | Apoptosis
Journal Article
Medicina Clínica, ISSN 0025-7753, 2017, Volume 150, Issue 2, pp. 67 - 74
Resumen Las enfermedades autoinflamatorias (EAIF) monogénicas son enfermedades minoritarias caracterizadas por un aumento descontrolado de la respuesta... 
Internal Medicine
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1126 - 1142
Journal Article
Medicina Clínica (English Edition), ISSN 2387-0206, 01/2018, Volume 150, Issue 2, pp. 67 - 74
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused... 
Undifferentiated autoinflammatory diseases | Inicio en edad adulta | Adult-onset | Monogenic autoinflammatory diseases | Enfermedades autoinflamatorias monogénicas | Enfermedades autoinflamatorias indiferenciadas
Journal Article