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


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… (More)
DOI: 10.1182/blood-2013-01-480814


7 Figures and Tables