Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

Rheumatology

Volumn 40, Issue 5, 2001, Pages 579-584

  Frenkel, J ^a   Houten, S M ^b   Waterham, H R ^b   Wanders, R J A ^b   Rijkers, G T ^a   Duran, M ^a   Kuijpers, T W ^b   Van Luijk, W ^c   Poll The, B T ^a   Kuis, W ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Familial Mediterranean Fever; Fever; Hypergammaglobulinaemia; IgD; Mevalonate kinase; Mevalonic acid; Periodicity

Indexed keywords

COMPLEMENTARY DNA; IMMUNOGLOBULIN D; MEVALONATE KINASE; MEVALONIC ACID; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; COMORBIDITY; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FEVER; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERIMMUNOGLOBULINEMIA; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MEDICAL RECORD; PRIORITY JOURNAL; RECURRENT DISEASE; URINARY EXCRETION;

CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENES, RECESSIVE; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN D; MALE; MEVALONIC ACID; MUTATION; PERIODICITY; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 0034987162     PISSN: 14620324     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
2. International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: The clinical spectrum in a series of 50 patients
3. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
4. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
5. Regulation of the mevalonate pathway
6. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria
7. Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis
8. Identification and characterization of 3 novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
9. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome
10. Periodic fever syndrome in children
11. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
12. A candidate gene for familial Mediterranean fever
13. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
14. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria