Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment

Annals of the Rheumatic Diseases

Volumn 67, Issue 9, 2008, Pages 1292-1298

  Stojanov, S ^a,d   Dejaco, C ^b,c   Lohse, P ^a   Huss, K ^a   Duftner, C ^b,c   Belohradsky, B H ^a   Herold, M ^b   Schirmer, M ^b,c  

^a UNIVERSITY OF MUNICH   (Germany)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c GENERAL HOSPITAL KLAGENFURT   (Austria)

^d NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; CYCLOHEXIMIDE; ETANERCEPT; GLUCOCORTICOID; LIPOCORTIN 5; NONSTEROID ANTIINFLAMMATORY AGENT; PHORBOL 13 ACETATE 12 MYRISTATE; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR 1;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; APOPTOSIS; ARTERY THROMBOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; FLOW CYTOMETRY; FLUORESCENCE ACTIVATED CELL SORTING; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEART INFARCTION; HUMAN; HUMAN CELL; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; T LYMPHOCYTE; THROMBECTOMY; TREATMENT OUTCOME; TREATMENT RESPONSE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; APOPTOSIS; BASE SEQUENCE; CARDIOVASCULAR DISEASES; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CELL AGING; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HUMANS; IMMUNOGLOBULIN G; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MONOCYTES; MUTATION; PEDIGREE; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE II; T-LYMPHOCYTE SUBSETS; TREATMENT OUTCOME; TUMOR NECROSIS FACTOR-ALPHA;

EID: 50249188364     PISSN: 00034967     EISSN: None     Source Type: Journal    
DOI: 10.1136/ard.2007.079376     Document Type: Article

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