Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Blood

Volumn 122, Issue 14, 2013, Pages 2390-2401

  Moncada Vélez, Marcela ^a,b   Martinez Barricarte, Rubén ^a   Bogunovic, Dusan ^a   Kong, Xiao Fei ^a   Blancas Galicia, Lizbeth ^c   Tirpan, Cengiz ^d   Aksu, Guzide ^e   Vincent, Quentin B ^f,g   Boisson, Bertrand ^a   Itan, Yuval ^a   Ramírez Alejo, Noé ^h   Okada, Satoshi ^a   Kreins, Alexandra Y ^a   Bryant, Vanessa L ^a   Franco, Jose Luis ^b   Migaud, Mélanie ^f,g   Espinosa Padilla, Sara ^c   Yamazaki Nakashimada, Marco ^c   Espinosa Rosales, Francisco ^c   Kutukculer, Necil ^e   Abel, Laurent ^a,f,g   Bustamante, Jacinta ^f,g,i   Vogt, Guillaume ^a,f,g   Casanova, Jean Laurent ^a,f,g   Boisson Dupuis, Stéphanie ^a,f,g   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^c INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^d Mardin Park Hastanesi   (Turkey)

^e EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^f IMAGINE INSTITUTE   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h DEPARTAMENTO DE FÍSICA   (Mexico)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR; INTERFERON GAMMA RECEPTOR 2; UNCLASSIFIED DRUG; ALKALOID; ENZYME INHIBITOR; IFNGR2 PROTEIN, HUMAN; INTERFERON RECEPTOR; KIFUNENSINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL SURFACE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENETIC ASSOCIATION; GLYCOSYLATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOPATHOGENESIS; INTERFERON GAMMA RECEPTOR 2 DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN MISFOLDING; CHILD; CONFOCAL MICROSCOPY; DRUG EFFECT; FEMALE; FLOW CYTOMETRY; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; MYCOBACTERIOSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEOSTASIS DEFICIENCY; WESTERN BLOTTING;

ALKALOIDS; BASE SEQUENCE; BLOTTING, WESTERN; CHILD; ENZYME INHIBITORS; FEMALE; FLOW CYTOMETRY; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; MALE; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; MYCOBACTERIUM INFECTIONS; PEDIGREE; PROTEOSTASIS DEFICIENCIES; RECEPTORS, INTERFERON; TRANSFECTION;

EID: 84887670038     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-01-480814     Document Type: Article

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