Familial chilblain lupus due to a gain-of-function mutation in STING

Annals of the Rheumatic Diseases

Volumn 76, Issue 2, 2017, Pages 468-472

  König, Nadja ^a   Fiehn, Christoph ^b   Wolf, Christine ^a   Schuster, Max ^a   Cura Costa, Emanuel ^c   Tüngler, Victoria ^a   Alvarez, Hugo Ariel ^c   Chara, Osvaldo ^c,d   Engel, Kerstin ^a   Goldbach Mansky, Raphaela ^e   Günther, Claudia ^a   Lee Kirsch, Min Ae ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b ACURA Akutklinik für Rheumatologie Baden Baden   (Germany)

^c Instituto de Fisica de Liquidos y Sistemas Biologicos   (Argentina)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA INTERFERON; COMPLEMENTARY DNA; CYCLIC AMP; CYCLIC GMP; INTERFERON; JANUS KINASE; TOFACITINIB; MEMBRANE PROTEIN; MPYS PROTEIN, HUMAN; PIPERIDINE DERIVATIVE; PROTEIN KINASE INHIBITOR; PYRIMIDINE DERIVATIVE; PYRROLE DERIVATIVE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOSOLIC FRACTION; DISEASE SIMULATION; FAMILIAL CHILBLAIN LUPUS; FAMILIAL DISEASE; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE ACTIVATION; GENE IDENTIFICATION; GENE REPRESSION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IFN BETA GENE; IFN GENE; MALE; MIDDLE AGED; MOLECULAR DOCKING; MUTANT; PAPULE; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SKIN LUPUS ERYTHEMATOSUS; STING GENE; STRUCTURE ANALYSIS; TREATMENT RESPONSE; VERY ELDERLY; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; ANGIOSCOPY; CHILBLAINS; FAMILY; GENETICS; GREECE; IMMUNOLOGY; LUPUS ERYTHEMATOSUS, CUTANEOUS; MUTATION; PATHOLOGY; PEDIGREE; REAL TIME POLYMERASE CHAIN REACTION; SKIN;

ADULT; BLOTTING, WESTERN; CHILBLAINS; FAMILY; FEMALE; GREECE; HUMANS; INTERFERON TYPE I; INTERFERON-BETA; LUPUS ERYTHEMATOSUS, CUTANEOUS; MALE; MEMBRANE PROTEINS; MICROSCOPIC ANGIOSCOPY; MOLECULAR DOCKING SIMULATION; MUTATION; PEDIGREE; PIPERIDINES; PROTEIN KINASE INHIBITORS; PYRIMIDINES; PYRROLES; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN;

EID: 84984621777     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2016-209841     Document Type: Article

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