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RHEUMATOLOGY, ISSN 1462-0324, 07/2007, Volume 46, Issue 7, pp. 1211 - 1212
Journal Article
Blood, ISSN 0006-4971, 11/2008, Volume 112, Issue 9, pp. 3563 - 3573
Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder characterized by recurring fever episodes and results from disturbed isoprenoid... 
CELLS | MEVALONATE KINASE-DEFICIENCY | PHOSPHORYLATION | PATHWAY | PERIODIC FEVER SYNDROME | MURINE MACROPHAGES | HYPERIMMUNOGLOBULINEMIA-D | GENE-EXPRESSION | INTERLEUKIN-1-BETA SECRETION | HEMATOLOGY | PROTEIN ISOPRENYLATION
Journal Article
CLINICAL LABORATORY, ISSN 1433-6510, 2019, Volume 65, Issue 7, pp. 1345 - 1348
Background: Hyper-IgA is not a rare finding in children although its causes are less reported than hypergamma-globulinemia in other classes of immunoglobulin.... 
hyperimmunoglobulinemia D syndrome | inflammation | PERIODIC FEVER SYNDROME | immunoglobulin A | HYPERIMMUNOGLOBULINEMIA-D | fever | MEDICAL LABORATORY TECHNOLOGY | immunoglobulin D
Journal Article
Seminars in Arthritis and Rheumatism, ISSN 0049-0172, 2019
Objective: We aimed to characterize the phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases (SAIDs). Methods: We... 
NLRP3-associated autoinflammatory disease | NLRP12-associated autoinflammatory disease | Familial Mediterranean fever | Adult-onset | Tumor necrosis factor receptor-associated periodic fever syndrome | Systemic autoinflammatory diseases
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2014, Volume 73, Issue 12, pp. 2160 - 2167
Journal Article
Pediatrics, ISSN 0031-4005, 07/2011, Volume 128, Issue 1, pp. e152 - e159
Journal Article
Biochemistry, ISSN 0006-2960, 08/2012, Volume 51, Issue 33, pp. 6545 - 6555
The widely accepted model for tumor necrosis factor 1 (TNFR1) signaling is that ligand binding causes receptor trimerization, which triggers a reorganization... 
DEATH DOMAIN | CELLS | ACTIVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PERIODIC FEVER SYNDROME | DISEASE | ALPHA | ENERGY-TRANSFER | NORMAL-MODE CALCULATIONS | NECROSIS-FACTOR RECEPTOR-1 | BINDING
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
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
Journal Article
Medicine, ISSN 0025-7974, 2008, Volume 87, Issue 6, pp. 301 - 310
Journal Article
Nature Genetics, ISSN 1061-4036, 1999, Volume 22, Issue 2, pp. 178 - 181
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by... 
ATTACKS | FAMILIAL HIBERNIAN FEVER | CLINICAL SPECTRUM | ACIDURIA | GENETICS & HEREDITY | HYPERIMMUNOGLOBULINEMIA-D | 12P13 | IDENTIFICATION | LINKAGE | MVK gene | familial Mediterranean fever | periodic fever syndrome | hyperimmunoglobulinemia D | familial Hibernian fever | HIDS gene
Journal Article
BMC PEDIATRICS, ISSN 1471-2431, 07/2019, Volume 19, Issue 1, pp. 245 - 4
BackgroundThis case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with... 
Periodic fever syndrome | Rash | EFFICACY | HyperIgD syndrome | CANAKINUMAB | DRUGS | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRICS | Inflammation | Mevalonic aciduria | Mevalonate kinase deficiency | Arthralgias | Case studies | Radiography | Treatment outcome | Care and treatment | Usage | Analysis | Genetic aspects | Diagnosis | Pediatric research
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1156 - 1160
Journal Article