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Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
Medicine, ISSN 0025-7974, 2008, Volume 87, Issue 6, pp. 301 - 310
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2014, Volume 73, Issue 12, pp. 2168 - 2173
Journal Article
Rheumatology, ISSN 1462-0324, 2016, Volume 55, Issue suppl 2, pp. ii23 - ii29
Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic... 
Interleukin-1 | Autoinflammation | Cytokines | Periodic fever | Interleukin-1 receptor antagonist | Canakinumab | Anakinra | interleukin-1 | MEVALONATE KINASE-DEFICIENCY | PERIODIC FEVER SYNDROME | autoinflammation | MONONUCLEAR-CELLS | FOLLOW-UP | OPEN-LABEL | RHEUMATOLOGY | anakinra | canakinumab | FAMILIAL MEDITERRANEAN FEVER | HYPERIMMUNOGLOBULINEMIA-D | cytokines | QUALITY-OF-LIFE | SCHNITZLER-SYNDROME | periodic fever | HIDRADENITIS SUPPURATIVA | interleukin-1 receptor antagonist | Antibodies, Monoclonal, Humanized - therapeutic use | Mevalonate Kinase Deficiency - physiopathology | Colchicine - therapeutic use | Humans | Familial Mediterranean Fever - genetics | Hereditary Autoinflammatory Diseases - immunology | Interleukin-1beta - immunology | Antibodies, Monoclonal - therapeutic use | Phosphotransferases (Alcohol Group Acceptor) - genetics | Familial Mediterranean Fever - drug therapy | Familial Mediterranean Fever - immunology | Mevalonate Kinase Deficiency - drug therapy | Mevalonate Kinase Deficiency - genetics | Molecular Targeted Therapy | Hereditary Autoinflammatory Diseases - drug therapy | Tubulin Modulators - therapeutic use | Familial Mediterranean Fever - physiopathology | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Mevalonate Kinase Deficiency - immunology | Hereditary Autoinflammatory Diseases - physiopathology | Antirheumatic Agents - therapeutic use | Hereditary Autoinflammatory Diseases - genetics
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 5/2008, Volume 28, Issue S1, pp. 73 - 83
Autoinflammatory diseases are a group monogenic inflammatory conditions characterized by an early onset during childhood.Under the term “periodic fevers” are... 
tumor necrosis factor (TNF) receptor-associated syndrome | Medical Microbiology | Biomedicine | Immunology | Internal Medicine | Infectious Diseases | Familial Mediterranean fever | mevalonate kinase deficiency | cryopyrinopathies | Tumor necrosis factor (TNF) receptor-associated syndrome | Cryopyrinopathies | Mevalonate kinase deficiency | RECURRENT MULTIFOCAL OSTEOMYELITIS | TNF RECEPTOR | INTERLEUKIN-1 BLOCKADE | necrosis factor (TNF) receptor-associated syndrome | CLINICAL-FEATURES | IMMUNOLOGY | CONGENITAL DYSERYTHROPOIETIC ANEMIA | mevalonate kinase deficiency tumor | MEVALONATE KINASE | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRIC GRANULOMATOUS ARTHRITIS | familial Mediterranean fever | PERIODIC FEVER | Autoimmune Diseases - physiopathology | Cytoskeletal Proteins - genetics | Mevalonate Kinase Deficiency - physiopathology | Humans | Child, Preschool | Infant | Mevalonate Kinase Deficiency - genetics | CARD Signaling Adaptor Proteins - genetics | Mevalonate Kinase Deficiency - therapy | Autoimmune Diseases - genetics | Adult | Amyloidosis - etiology | Steroids - therapeutic use | Child | CARD Signaling Adaptor Proteins - immunology | Autoimmune Diseases - complications | Familial Mediterranean Fever - genetics | Familial Mediterranean Fever - complications | Genotype | Familial Mediterranean Fever - therapy | Inflammation | Autoimmune Diseases - diagnosis | Mevalonate Kinase Deficiency - diagnosis | Pyrin | Familial Mediterranean Fever - physiopathology | Adaptor Proteins, Signal Transducing - genetics | Age of Onset | Mevalonate Kinase Deficiency - complications | Autoimmune Diseases - therapy | Familial Mediterranean Fever - diagnosis | Mutation | Care and treatment | Children | Diagnosis | Tumor necrosis factor | Diseases
Journal Article
Seminars in Arthritis and Rheumatism, ISSN 0049-0172, 2016, Volume 46, Issue 3, pp. 367 - 371
Journal Article
Journal Article
Journal Article
Journal Article
Internal and Emergency Medicine, ISSN 1828-0447, 9/2016, Volume 11, Issue 6, pp. 781 - 791
Journal Article