A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants

Clinical Immunology

Volumn 157, Issue 1, 2015, Pages 56-64

  Rieber, Nikolaus ^a   Gavrilov, Alina ^a   Hofer, Laura ^a   Singh, Anurag ^a   Öz, Hasan ^a   Endres, Theresa ^a   Schäfer, Iris ^a   Handgretinger, Rupert ^a   Hartl, Dominik ^a   Kuemmerle Deschner, Jasmin ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Autoinflammation; CAPS; IL 1 ; NLRP3; TNF ; Variants

Indexed keywords

CRYOPYRIN; INFLAMMASOME; INTERLEUKIN 1; INTERLEUKIN 18; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; CARRIER PROTEIN; NLRP3 PROTEIN, HUMAN;

ADULT; ARTICLE; CELL ISOLATION; CINCA SYNDROME; CLINICAL ARTICLE; CYTOKINE RELEASE; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; MALE; MUCKLE WELLS SYNDROME; PENETRANCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; WELLS SYNDROME; BIOASSAY; COMPARATIVE STUDY; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PROCEDURES;

ADULT; BIOLOGICAL ASSAY; CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; GENETIC VARIATION; HUMANS; INFLAMMASOMES; MALE; MUTATION;

EID: 84921454539     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2015.01.003     Document Type: Article

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