Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome

Journal of Experimental Medicine

Volumn 213, Issue 7, 2016, Pages 1163-1174

  Meuwissen, Marije E C ^a,i   Schot, Rachel ^a   Buta, Sofija ^b   Oudesluijs, Grétel ^a   Tinschert, Sigrid ^c,d   Speer, Scott D ^b   Li, Zhi ^e   van Unen, Leontine ^a   Heijsman, Daphne ^a   Goldmann, Tobias ^b   Lequin, Maarten H ^a   Kros, Johan M ^a   Stam, Wendy ^a   Hermann, Mark ^b   Willemsen, Rob ^a   Brouwer, Rutger W W ^a   Van IJcken, Wilfred F J ^a   Martin Fernandez, Marta ^b   de Coo, Irenaeus ^a   Dudink, Jeroen ^a   de Vries, Femke A T ^a   Avella, Aida Bertoli ^a,j   Prinz, Marco ^f   Crow, Yanick J ^g,h   Verheijen, Frans W ^a   Pellegrini, Sandra ^e   Bogunovic, Dusan ^b   Mancini, Grazia M S ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e CNRS   (France)

^f UNIVERSITY OF FREIBURG   (Germany)

^g IMAGINE INSTITUTE   (France)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁱ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^j CENTOGENE AG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOPSY; BRAIN DISEASE; CALCIFICATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; EX VIVO STUDY; FEMALE; FIBROBLAST; GENETIC DISORDER; HUMAN; IN VITRO STUDY; INFLAMMATION; INNATE IMMUNITY; LOSS OF FUNCTION MUTATION; MALE; METABOLIC DISORDER; MICROGYRIA; PRIORITY JOURNAL; PSEUDO TORCH SYNDROME; TYPE 1 INTERFERONOPATHY; UBIQUITIN SPECIFIC PEPTIDASE 18 DEFICIENCY; BRAIN; CALCINOSIS; CLINICAL TRIAL; DEFICIENCY; GENETICS; IMMUNOLOGY; MICROGLIA; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; PATHOLOGY; SIGNAL TRANSDUCTION;

INTERFERON; PROTEINASE; USP18 PROTEIN, HUMAN;

AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN; CALCINOSIS; ENDOPEPTIDASES; FEMALE; HUMANS; IMMUNITY, INNATE; INTERFERON TYPE I; MALE; MICROGLIA; NERVOUS SYSTEM MALFORMATIONS; SIGNAL TRANSDUCTION;

EID: 84977640575     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20151529     Document Type: Article

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