• DOI:10.1182/blood-2013-01-480814
Corpus ID: 6744625

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

@article{MoncadaVelez2013PartialID,
  title={Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.},
  author={Marcela Moncada-Velez and Ruben Martinez-Barricarte and D. Bogunovic and Xiao-Fei Kong and L. Blancas-Galicia and Cengiz Tirpan and G. Aksu and Quentin B. Vincent and B. Boisson and Y. Itan and No{\'e} Ram{\'i}rez-Alejo and S. Okada and A. Kreins and Vanessa L Bryant and J. Franco and M. Migaud and S. Espinosa-Padilla and M. Yamazaki-Nakashimada and F. Espinosa-Rosales and N. Kutukculer and L. Abel and J. Bustamante and G. Vogt and J. Casanova and S. Boisson-Dupuis},
  journal={Blood},
  year={2013},
  volume={122 14},
  pages={
          2390-401
        }
}

Marcela Moncada-Velez, Ruben Martinez-Barricarte, +22 authors S. Boisson-Dupuis

Published 2013

Biology, Medicine

Blood

We report a molecular study of the two known patients with autosomal recessive, partial interferon-γ receptor (IFN-γR)2 deficiency (homozygous for mutations R114C and G227R), and three novel, unrelated children, homozygous for S124F (P1) and G141R (P2 and P3). IFN-γR2 levels on the surface of the three latter patients' cells are slightly lower than those on control cells. The patients' cells also display impaired, but not abolished, response to IFN-γ. Moreover, the R114C, S124F, G141R and G227R… CONTINUE READING

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