Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Journal of Clinical Investigation

Volumn 124, Issue 12, 2014, Pages 5516-5520

  Jeremiah, Nadia ^a,b   Neven, Bénédicte ^a,b,c   Gentili, Matteo ^d,e   Callebaut, Isabelle ^f   Maschalidi, Sophia ^a,b   Stolzenberg, Marie Claude ^a,b   Goudin, Nicolas ^c   Frémond, Marie Louis ^c   Nitschke, Patrick ^b,g   Molina, Thierry J ^c   Blanche, Stéphane ^b,c   Picard, Capucine ^b,c,g   Rice, Gillian I ^h   Crow, Yanick J ^a,b,h   Manel, Nicolas ^d,e   Fischer, Alain ^a,b,c,i   Bader Meunier, Brigitte ^a,b,c   Rieux Laucat, Frédéric ^a,b  

^a INSERM   (France)

^b Hôpital Necker Enfants Malades   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d PSL RESEARCH UNIVERSITY   (France)

^e INSTITUT CURIE   (France)

^f UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

^g IMAGINE INSTITUTE   (France)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁱ l'alimentation et l'Environnement   (France)

Author keywords

[No Author keywords available]

Indexed keywords

2' 3' CYCLIC GMP AMP; BETA INTERFERON; CYCLIC AMP; CYCLIC GMP; DNA; INTERFERON; INTERFERON REGULATORY FACTOR 3; PROTEIN; STING PROTEIN; UNCLASSIFIED DRUG; CYCLIC GUANOSINE MONOPHOSPHATE-ADENOSINE MONOPHOSPHATE; CYCLIC NUCLEOTIDE; MEMBRANE PROTEIN; MPYS PROTEIN, HUMAN;

ADAPTIVE IMMUNITY; ADULT; AGED; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; AUTOSOMAL INHERITANCE; BLOOD ANALYSIS; CASE REPORT; CHILD; COMPARATIVE STUDY; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOSOL; DIMERIZATION; FAMILIAL DISEASE; FAMILIAL INFLAMMATORY SYNDROME; FAMILY ASSESSMENT; FEMALE; FIBROBLAST; GAIN OF FUNCTION MUTATION; GENE ACTIVATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GERMLINE MUTATION; GOLGI COMPLEX; HUMAN; IMMUNE RESPONSE; IN VITRO STUDY; INFLAMMATORY DISEASE; LUPUS LIKE SYNDROME; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; CLINICAL TRIAL; GENETIC DISORDER; GENETICS; IMMUNOLOGY; INNATE IMMUNITY; MUTATION; PATHOLOGY; PROTEIN MULTIMERIZATION; SIGNAL TRANSDUCTION; SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADAPTIVE IMMUNITY; ADULT; AGED; CHILD, PRESCHOOL; FEMALE; GENETIC DISEASES, INBORN; HUMANS; IMMUNITY, INNATE; INTERFERON TYPE I; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MEMBRANE PROTEINS; MUTATION; NUCLEOTIDES, CYCLIC; PROTEIN MULTIMERIZATION; SIGNAL TRANSDUCTION; SYNDROME;

EID: 84915745085     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI79100     Document Type: Article

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