A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus

Rheumatology

Volumn 43, Issue 10, 2004, Pages 1292-1299

  Ida, H ^a   Kawasaki, E ^a   Miyashita, T ^a   Tanaka, F ^a   Kamachi, M ^a   Izumi, Y ^a   Huang, M ^a   Tamai, M ^a   Origuchi, T ^b   Kawakami, A ^a   Migita, K ^a   Motomura, M ^a   Yoshimura, T ^b   Eguchi, K ^a  

^a NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

Author keywords

Hereditary periodic fever syndrome; Mutation; SLE; TNF receptor; TNFRSF1A; TRAPS

Indexed keywords

CYTOSINE; GENOMIC DNA; ISOLEUCINE; RECEPTOR SUBTYPE; THREONINE; THYMINE; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE DISEASE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL INHERITANCE; BEHCET DISEASE; CELL SURFACE; CLINICAL OBSERVATION; CONTROLLED STUDY; DNA SEQUENCE; ENZYME IMMUNOASSAY; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FEVER; FLOW CYTOMETRY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOPATHOGENESIS; IN VITRO STUDY; JAPAN; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MIXED CONNECTIVE TISSUE DISEASE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN FAMILY; RECURRENT DISEASE; RHEUMATOID ARTHRITIS; SENSITIVITY AND SPECIFICITY; SYMPTOMATOLOGY; SYSTEMIC LUPUS ERYTHEMATOSUS; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ADOLESCENT; ADULT; ANTIGENS, CD; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FAMILY HEALTH; FEMALE; FLOW CYTOMETRY; HISTOCOMPATIBILITY TESTING; HUMANS; IMMUNOHISTOCHEMISTRY; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MONOCYTES; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RESTRICTION MAPPING; TUMOR NECROSIS FACTOR-ALPHA;

EID: 5444276447     PISSN: 14620324     EISSN: None     Source Type: Journal    
DOI: 10.1093/rheumatology/keh320     Document Type: Article

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