Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

Arthritis and Rheumatism

Volumn 46, Issue 9, 2002, Pages 2445-2452

  Aganna, Ebun ^a   Martinon, Fabio ^b   Hawkins, Philip N ^c   Ross, John B ^d   Swan, Daniel C ^a   Booth, David R ^c   Lachmann, Helen J ^c   Gaudet, Roxanne ^e   Woo, Patricia ^f   Feighery, Conleth ^g   Cotter, Finbarr E ^a   Thome, Margot ^b   Hitman, Graham A ^a   Tschopp, Jürg ^b   McDermott, Michael F ^a,h  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d DALHOUSIE UNIVERSITY   (Canada)

^e QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g ST JAMES S HOSPITAL   (Ireland)

^h ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOIDOSIS; ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME 1Q; CLINICAL FEATURE; COLD SENSITIVITY; COLD URTICARIA; CONTROLLED STUDY; DISEASE SEVERITY; FEVER; GENE; GENE CIAS1; GENE MUTATION; GENE NALP3; GENE PYPAF1; HUMAN; MAJOR CLINICAL STUDY; MUCKLE WELLS SYNDROME; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; SYMPTOMATOLOGY;

ADULT; AMYLOIDOSIS; BLOOD PROTEINS; CARRIER PROTEINS; COLD; FEMALE; FEVER; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECURRENCE; SERUM AMYLOID A PROTEIN; URTICARIA;

EID: 0036745064     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.10509     Document Type: Article

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