Periodic fever due to a novel TNFSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q [5]

Rheumatology

Volumn 43, Issue 4, 2004, Pages 526-527

  Stojanov, Silvia ^a   Lohse, P ^a   McDermott, M F ^b   Renner, E D ^a   Kery A ^a   Mirakian, R ^b   Hammond, L J ^b   Aganna, E ^b   Hoffmann, F ^a   Zellerer, S ^a   Belohradsky, B H ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE PHASE PROTEIN; ASPARTIC ACID; C REACTIVE PROTEIN; COLCHICINE; GLUCOCORTICOID; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISONE; TUMOR NECROSIS FACTOR ALPHA RECEPTOR; TYROSINE;

ACUTE PHASE RESPONSE; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA SEQUENCE; ERYTHROCYTE SEDIMENTATION RATE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; IMMUNOPATHOGENESIS; LABORATORY TEST; LETTER; MALE; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

BASE SEQUENCE; CHILD; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; HETEROZYGOTE; HUMANS; MALE; MUTATION; PROTEINS;

EID: 11144356367     PISSN: 14620324     EISSN: None     Source Type: Journal    
DOI: 10.1093/rheumatology/keh066     Document Type: Letter

References (6)

1. McDermott MF, Aksentijevich I, Galon J et al. Germline mutations in the extracellular domains of the 55kDa TNF receptor (TNF-R1) define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
2. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998;351:659-64.
3. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001;9:1317-25.
4. Booth DR, Lachmann JD, Gillmore SE, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J Med 2001;94:527-31.
5. Dodé C, André M, Bienvenu T et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:2181-8.
6. Banner DW, D'Arcy A, Janes W et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 1993;73:431-45.