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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
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 04/2014, Volume 111, Issue 17, pp. E1768 - E1776
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 10/2009, Volume 124, Issue 4, pp. e721 - e728
Journal Article
Journal Article
The Journal of Infectious Diseases, ISSN 0022-1899, 8/2004, Volume 190, Issue 4, pp. 727 - 738
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, p. e46376
Journal Article
Pediatric Allergy and Immunology, ISSN 0905-6157, 02/2016, Volume 27, Issue 1, pp. 78 - 82
BackgroundThe cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial... 
hypogammaglobulinemia | PFAPA | MEFV | children | syndrome | Hypogammaglobulinemia | Children | PFAPA syndrome | TURKISH CHILDREN | CERVICAL ADENITIS SYNDROME | ADENOPATHY SYNDROME | APHTHOUS STOMATITIS | IMMUNOLOGY | PHARYNGITIS | MEFV GENE | ALLERGY | HENOCH-SCHONLEIN PURPURA | DISEASE | FREQUENCY | PEDIATRICS | PERIODIC FEVER | Glucocorticoids - therapeutic use | Immunoglobulin G - blood | Cytoskeletal Proteins - genetics | Colchicine - therapeutic use | Humans | Child, Preschool | Infant | Male | Pharyngitis - genetics | Pharyngitis - diagnosis | Stomatitis, Aphthous - diagnosis | Stomatitis, Aphthous - genetics | Lymphadenitis - diagnosis | DNA Mutational Analysis | Anti-Inflammatory Agents - therapeutic use | Female | Lymphadenitis - drug therapy | Prednisolone - therapeutic use | Retrospective Studies | Lymphadenitis - blood | Child | Genetic Predisposition to Disease | Genetic Association Studies | Risk Factors | Familial Mediterranean Fever - genetics | Treatment Outcome | Biomarkers - blood | Familial Mediterranean Fever - drug therapy | Lymphadenitis - genetics | Pyrin | Syndrome | Familial Mediterranean Fever - blood | Homozygote | Phenotype | Stomatitis, Aphthous - blood | Stomatitis, Aphthous - drug therapy | Pharyngitis - drug therapy | Heterozygote | Familial Mediterranean Fever - diagnosis | Mutation | Pharyngitis - blood | Gene mutations | Analysis | Genes | Genetic research | Familial Mediterranean fever | Genetic aspects | Colchicine | Prednisolone | Pediatrics | Genetic disorders | Inflammatory diseases
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2011, Volume 108, Issue 12, pp. 5039 - 5044
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 5, pp. 1698 - 1703
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2014, Volume 34, Issue 5, pp. 584 - 593
To investigate clinical presentation, genetic background and cytokine profile of Japanese sporadic cases of periodic fever, aphthous stomatitis, pharyngitis... 
Medical Microbiology | tonsillectomy | Biomedicine | Immunology | PFAPA | IgD | Infectious Diseases | Internal Medicine | MEFV | IL-1β | PFAPA SYNDROME | ACTIVATION | VARIANTS | IL-1 beta | IMMUNOLOGY | AUTOINFLAMMATORY SYNDROMES | CHILDREN | FAMILIAL MEDITERRANEAN FEVER | INFLAMMATION | YOUNG-ADULT | Cytoskeletal Proteins - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Receptors, Tumor Necrosis Factor, Type I - immunology | Fever - complications | Humans | Tumor Necrosis Factor-alpha - blood | Child, Preschool | Lymphadenitis - immunology | Infant | Male | Stomatitis, Aphthous - pathology | Lymphadenitis - pathology | Interleukin-1beta - blood | Pharyngitis - genetics | Stomatitis, Aphthous - genetics | Stomatitis, Aphthous - immunology | Female | Pharyngitis - pathology | Fever - immunology | Lymphadenitis - complications | Child | Carrier Proteins - immunology | Fever - pathology | Infant, Newborn | Pharyngitis - immunology | Pharyngitis - complications | Gene Expression | Interleukin-18 - blood | Stomatitis, Aphthous - complications | Japan | Periodicity | Lymphadenitis - genetics | Receptors, Tumor Necrosis Factor, Type I - genetics | Pyrin | Syndrome | Carrier Proteins - genetics | Cytoskeletal Proteins - immunology | Tonsillectomy | Fever - genetics | Heterozygote | Mutation | Medical colleges | Corticosteroids | Genomics | Stomatitis | Medical centers | Genetic research | Genetic aspects | Stomatitis, Aphthous | Pharyngitis | Nucleotide sequencing | Lymphadenitis | DNA sequencing
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