Mevalonate kinase deficiency, a metabolic autoinflammatory disease

Clinical Immunology

Volumn 147, Issue 3, 2013, Pages 197-206

  van der Burgh, Robert ^a   ter Haar, Nienke M ^a   Boes, Marianne L ^a   Frenkel, Joost ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Autoinflammatory disease; Hyper IgD syndrome; Interleukin 1; Isoprenoids; Mevalonate kinase deficiency; Mevalonic aciduria

Indexed keywords

ACUTE PHASE PROTEIN; ADALIMUMAB; CANAKINUMAB; ETANERCEPT; GERANYLGERANYL PYROPHOSPHATE; GUANOSINE TRIPHOSPHATASE; INFLAMMASOME; INFLIXIMAB; INTERLEUKIN 1; INTERLEUKIN 1BETA; ISOPRENOID; MEVALONIC ACID; PREDNISOLONE; RAC1 PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RILONACEPT; UBIQUINONE; ISOPRENOID PHOSPHATE; MEVALONATE KINASE; PHOSPHOTRANSFERASE; RAC1 PROTEIN, HUMAN;

ALLOGENEIC STEM CELL TRANSPLANTATION; ATAXIA; COGNITIVE DEFECT; CYTOKINE RELEASE; ENZYME DEFECT; EVIDENCE BASED PRACTICE; GENE MUTATION; GROWTH RETARDATION; HUMAN; INTERVENTION STUDY; LYMPHADENOPATHY; MEVALONATE KINASE DEFICIENCY; PATHOPHYSIOLOGY; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RECURRENT FEVER; REVIEW; DRUG ANTAGONISM; ENZYME ACTIVATION; GENETICS; IMMUNOLOGY; INFLAMMATION; METABOLISM; RARE DISEASE;

ENZYME ACTIVATION; HUMANS; INFLAMMASOMES; INFLAMMATION; INTERLEUKIN-1BETA; MEVALONATE KINASE DEFICIENCY; MEVALONIC ACID; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYISOPRENYL PHOSPHATES; RAC1 GTP-BINDING PROTEIN; RARE DISEASES;

EID: 84882261864     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2012.09.011     Document Type: Review

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