Literature citations
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection.
Doeffinger R.; Jouanguy E.; Dupuis S.; Fondaneche M.C.; Stephan J.L.; Emile J.F.; Lamhamedi-Cherradi S.; Altare F.; Pallier A.; Barcenas-Morales G.; Meinl E.; Krause C.; Pestka S.; Schreiber R.D.; Novelli F.; Casanova J.L.;
J. Infect. Dis. 181:379-384(2000)
Cited for: VARIANT IMD28 CYS-114;
Partial IFN-gammaR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Velez M.; Martinez-Barricarte R.; Bogunovic D.; Kong X.F.; Blancas-Galicia L.; Tirpan C.; Aksu G.; Vincent Q.B.; Boisson B.; Itan Y.; Ramirez-Alejo N.; Okada S.; Kreins A.Y.; Bryant V.L.; Franco J.L.; Migaud M.; Espinosa-Padilla S.; Yamazaki-Nakashimada M.; Espinosa-Rosales F.; Kutukculer N.; Abel L.; Bustamante J.; Vogt G.; Casanova J.L.; Boisson-Dupuis S.;
Blood 122:2390-2401(2013)
Cited for: VARIANTS IMD28 PHE-124 AND ARG-141; CHARACTERIZATION OF VARIANTS IMD28 CYS-114; PHE-124; ARG-141; ASN-168 AND ARG-227; SUBCELLULAR LOCATION;
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