ArticleBlood2013
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.Journal of clinical immunology · 2020Pooled it
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.Clinical and experimental immunology · 2024Article
- Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.The Journal of experimental medicine · 2022Article
- Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.Journal of immunology (Baltimore, Md. : 1950) · 2021Article
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Generalized Pustular Psoriasis in Patients with Interferon Gamma (IFN-γ) Receptor Deficiency and Mycobacterial Infection.Journal of clinical immunology · 2021Article
- Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.Journal of clinical immunology · 2020Article
- Inherited human IFN-γ deficiency underlies mycobacterial disease.The Journal of clinical investigation · 2020Article
- Biological and Technical Challenges in Unraveling the Role of N-Glycans in Immune Receptor Regulation.Frontiers in chemistry · 2020Review
- A Novel Splice Site Mutation inFrontiers in immunology · 2019Article
- Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.Science immunology · 2018Article
- A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.Human molecular genetics · 2018Article
- Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.Critical reviews in clinical laboratory sciences · 2018Review
- Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Frontiers in immunology · 2017Review
- Crystal structure of human interferon-γ receptor 2 reveals the structural basis for receptor specificity.Acta crystallographica. Section D, Structural biology · 2016Article
- A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Seminars in immunopathology · 2016Review
- Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Immunological reviews · 2015Review
- Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.Frontiers in pediatrics · 2015Review
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 8 institutions in 5 countries.
Funding
Abstract
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 IFNGR2 hypomorphic alleles all encode misfolded proteins with abnormal N-glycosylation. The mutants are largely retained in the endoplasmic reticulum, although a small proportion reach and function at the cell surface. Strikingly, the IFN-γ response of the patients' cells is enhanced by chemical modifiers of N-glycosylation, as previously shown for patients with gain-of-glysosylation T168N and misfolding 382-387dup null mutations. All four in-frame IFNGR2 hypomorphic mutant alleles encoding surface-expressed receptors are thus deleterious by a mechanism involving abnormal N-glycosylation and misfolding of the IFN-γR2 protein. The diagnosis of partial IFN-γR2 deficiency is clinically useful, as affected patients should be treated with IFN-γ, [corrected] unlike patients with complete IFN-γR2 deficiency. Moreover, inhibitors of glycosylation might be beneficial in patients with complete or partial IFN-γR2 deficiency due to misfolding or gain-of-glycosylation receptors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.