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Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Among authors: tirpan c. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
The second case with 47, XY, + 8 [38] / 45, X0.
Coğulu O, Tirpan C, Ozkinay F, Gündüz C, Ozkinay C. Coğulu O, et al. Among authors: tirpan c. Turk J Pediatr. 2002 Jan-Mar;44(1):86-9. Turk J Pediatr. 2002. PMID: 11858390 No abstract available.