NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment

Arthritis Research and Therapy

Volumn 13, Issue 6, 2011, Pages

  Kuemmerle Deschner, Jasmin B ^a   Lohse, Peter ^b   Koetter, Ina ^a   Dannecker, Guenther E ^c   Reess, Fabian ^c   Ummenhofer, Katharina ^a   Koch, Silvia ^a   Tzaribachev, Nikolay ^d   Bialkowski, Anja ^a   Benseler, Susanne M ^e  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b Inst für Laboratoriumsmedizin   (Germany)

^c Olgahospital ^*  (Germany)

^d Center for Rheumatic Diseases   (Germany)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; CANAKINUMAB; CRYOPYRIN; CYTOKINE RECEPTOR; GLUTAMINE; INTERLEUKIN 6; LYSINE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SERUM AMYLOID A; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR 1; TUMOR NECROSIS FACTOR RECEPTOR 2; ANTIRHEUMATIC AGENT; CARRIER PROTEIN; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 1BETA; MONOCLONAL ANTIBODY; NLRP3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; DRUG DOSE ESCALATION; ERYTHROCYTE SEDIMENTATION RATE; EXON; FATIGUE; FEMALE; GENE MUTATION; GENETIC CODE; HEARING LOSS; HUMAN; MALE; MUCKLE WELLS SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL; SCHOOL CHILD; TREATMENT RESPONSE; CINCA SYNDROME; DRUG ANTAGONISM; FAMILY HEALTH; GENETIC HETEROGENEITY; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANTIBODIES, MONOCLONAL; ANTIRHEUMATIC AGENTS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; INTERLEUKIN-1BETA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; TREATMENT OUTCOME; YOUNG ADULT;

EID: 82655170808     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar3526     Document Type: Article

References (25)

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