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

doi:10.1182/blood-2013-01-480814

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Article

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

Blood - 3 Oct 2013

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

Abstract excerpt

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...

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Identifiers

PMID: 23963039
DOI: 10.1182/blood-2013-01-480814
PMCID: PMC3790508

Genes

IFNGR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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