Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: Overlap between Aicardi-Goutières and Singleton-Merten syndromes

British Journal of Dermatology

Volumn 173, Issue 6, 2015, Pages 1505-1513

  Bursztejn, A C ^a   Briggs, T A ^b   Del Toro Duany, Y ^c   Anderson, B H ^b   O'Sullivan, J ^b   Williams, S G ^b   Bodemer, C ^d   Fraitag, S ^e   Gebhard, F ^f   Leheup, B ^a   Lemelle, I ^a   Oojageer, A ^b   Raffo, E ^a   Schmitt, E ^a   Rice, G I ^b   Hur, S ^c   Crow, Y J ^b,d  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c HARVARD MEDICAL SCHOOL   (United States)

^d IMAGINE INSTITUTE   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f Medical Office   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CORTICOSTEROID; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERFERON; INTERFERON INDUCED HELICASE C DOMAINCONTAINING PROTEIN 1; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; MUTANT PROTEIN; POLYCYTIDYLIC ACID; THREONINE; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; DEAD BOX PROTEIN; IFIH1 PROTEIN, HUMAN; INTERFERON INDUCED HELICASE C DOMAIN CONTAINING PROTEIN 1;

ACANTHOSIS; AICARDI GOUTIERES SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASEMENT MEMBRANE; BLOOD ANALYSIS; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORONARY ARTERY CALCIFICATION; CORTICOSTEROID THERAPY; DERMATITIS; DISEASE ASSOCIATION; EYE EXAMINATION; FAMILY ASSESSMENT; FAMILY HISTORY; FOOT MALFORMATION; GAIN OF FUNCTION MUTATION; GENODERMATOSIS; GESTATIONAL AGE; GLAUCOMA; HALLUX VALGUS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; HYPOPLASIA; IN VITRO STUDY; INTERFERON INDUCTION; LICHENOID; LUPUS VULGARIS; MALE; MOSAICISM; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPULAR RASH; PERIODONTAL DISEASE; PHOTOSENSITIVITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUADRIPLEGIA; RADIATION EXPOSURE; RESPIRATORY DISTRESS; RHEUMATIC DISEASE; SCAR FORMATION; SIGNAL TRANSDUCTION; SINGLETON MERTEN SYNDROME; SKIN BIOPSY; SOCIAL BEHAVIOR; SPASTICITY; SPEECH THERAPY; TELANGIECTASIA; TOOTH ERUPTION; TOOTH PROSTHESIS; ULCER; ULTRAVIOLET RADIATION; ABNORMALITIES; ADULT; AORTA DISEASE; BLOOD VESSEL CALCIFICATION; CHILBLAIN; ENAMEL HYPOPLASIA; GENETICS; INFANT; METACARPAL BONE; MUSCLE DISEASE; MUTATION; NERVOUS SYSTEM MALFORMATION; OSTEOPOROSIS; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; SKIN DISEASE; SKIN LUPUS ERYTHEMATOSUS; TOOTH MALFORMATION;

ADULT; AORTIC DISEASES; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILBLAINS; CHILD, PRESCHOOL; DEAD-BOX RNA HELICASES; DENTAL ENAMEL HYPOPLASIA; HETEROZYGOTE; HUMANS; INFANT; INTERFERON-INDUCED HELICASE, IFIH1; LUPUS ERYTHEMATOSUS, CUTANEOUS; MALE; METACARPUS; MUSCULAR DISEASES; MUTATION; NERVOUS SYSTEM DISEASES; NERVOUS SYSTEM MALFORMATIONS; ODONTODYSPLASIA; OSTEOPOROSIS; PHENOTYPE; SKIN DISEASES, GENETIC; TOOTH LOSS; VASCULAR CALCIFICATION;

EID: 84983094431     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.14073     Document Type: Article

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