Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Arthritis and Rheumatism

Volumn 63, Issue 3, 2011, Pages 830-839

  Borghini, S ^a   Tassi, S ^b   Chiesa, S ^c   Caroli, F ^c   Carta, S ^b   Caorsi, R ^c   Fiore, M ^c   Delfino, L ^b   Lasiglie D ^c   Ferraris, C ^c   Traggiai, E ^c   Di Duca, M ^c   Santamaria, G ^c   D'Osualdo, A ^d   Tosca, M ^c   Martini, A ^a   Ceccherini, I ^c   Rubartelli, A ^b   Gattorno, M ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ANTIHISTAMINIC AGENT; ANTIOXIDANT; ASPARTIC ACID; GLUTAMIC ACID; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1 ANTIBODY; INTERLEUKIN 1BETA; LUCIFERASE; MUTANT PROTEIN; NONSTEROID ANTIINFLAMMATORY AGENT; NUCLEOTIDE BINDING PROTEIN; PATHOGEN ASSOCIATED MOLECULAR PATTERN; PATTERN RECOGNITION RECEPTOR; PROTEIN NLRP12; REACTIVE OXYGEN METABOLITE; STEROID; SYNAPTOTAGMIN I; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ADULT; AGED; ALLERGIC VASCULITIS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTHRALGIA; ARTICLE; BINDING AFFINITY; CAUCASIAN; CELL STRAIN HEK293; CLINICAL ARTICLE; CLINICAL FEATURE; COLD EXPOSURE; CONTROLLED STUDY; CYTOKINE RELEASE; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILY; FEMALE; GENE EXPRESSION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IN VITRO STUDY; LOW DRUG DOSE; MALE; MISSENSE MUTATION; MONOCYTE; MYALGIA; OPTIC NEURITIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RASH; RECEPTOR UPREGULATION; RECURRENT DISEASE; RECURRENT FEVER; SKIN TEST; STEROID THERAPY; URTICARIA; WILD TYPE;

ADULT; AGED; COLD TEMPERATURE; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; HEK293 CELLS; HUMANS; INTERLEUKIN-1BETA; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MONOCYTES; MUTATION, MISSENSE; NF-KAPPA B; OXIDATIVE STRESS; PEDIGREE; PHENOTYPE;

EID: 79953702540     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.30170     Document Type: Article

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