An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Nature Genetics

Volumn 46, Issue 10, 2014, Pages 1140-1146

  Canna, Scott W ^a   De Jesus, Adriana A ^b   Gouni, Sushanth ^a   Brooks, Stephen R ^c   Marrero, Bernadette ^b   Liu, Yin ^b   Dimattia, Michael A ^b   Zaal, Kristien J M ^c   Sanchez, Gina A Montealegre ^b   Kim, Hanna ^b   Chapelle, Dawn ^b   Plass, Nicole ^b   Huang, Yan ^b   Villarino, Alejandro V ^a   Biancotto, Angelique ^d   Fleisher, Thomas A ^e   Duncan, Joseph A ^f   O'Shea, John J ^a   Benseler, Susanne ^g   Grom, Alexei ^h   Deng, Zuoming ^c   Laxer, Ronald M ⁱ   Goldbach Mansky, Raphaela ^b   more..

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c National Institute of Arthritis Musculoskeletal and Skin Diseases   (United States)

^d NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CALGARY   (Canada)

^h UNIVERSITY OF CINCINNATI   (United States)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALGRANULIN; CALGRANULIN A; CALGRANULIN B; CRYOPYRIN; FERRITIN; INFLAMMASOME; INTERLEUKIN 18; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; LACTATE DEHYDROGENASE; NLRC4 PROTEIN; NUCLEOTIDE BINDING PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; S100A12 PROTEIN; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; NLRC4 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOINFLAMMATORY DISEASE; CASE REPORT; CHILD; CINCA SYNDROME; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOKINE RELEASE; CYTOKINE STORM; DISEASE EXACERBATION; DRUG FEVER; ERYTHROPHAGOCYTOSIS; FEMALE; FERRITIN BLOOD LEVEL; GAIN OF FUNCTION MUTATION; GENETIC SCREENING; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; HYPERTRANSAMINASEMIA; LABORATORY TEST; LACTATE DEHYDROGENASE BLOOD LEVEL; MACROPHAGE ACTIVATION; MACROPHAGE ACTIVATION SYNDROME; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN EXPRESSION; RECURRENT FEVER; SCHOOL CHILD; SEQUENCE ANALYSIS; VIRUS INFECTION; AMINO ACID SEQUENCE; BLOOD; DNA MICROARRAY; DNA SEQUENCE; EXOME; GENE EXPRESSION PROFILING; GENETICS; INFLAMMATION; MACROPHAGE; METABOLISM; MOLECULAR GENETICS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; CALCIUM-BINDING PROTEINS; CARD SIGNALING ADAPTOR PROTEINS; CHILD; EXOME; FEMALE; GENE EXPRESSION PROFILING; HUMANS; INFLAMMASOMES; INFLAMMATION; INTERLEUKIN-18; MACROPHAGE ACTIVATION SYNDROME; MACROPHAGES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84927126118     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3089     Document Type: Article

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