Associated Papers
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.
Labere B et al.
Journal of Clinical Immunology, 2024
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
[Analysis of IFN-γR1 (CD119) and IL-12Rβ1 (CD212) Deficiency by Flow Cytometry].
Gelmez MY et al.
Mikrobiyoloji Bulteni, 2023
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
CD4 T cell-restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency.
Khanolkar A et al.
The Journal of Allergy and Clinical Immunology, 2018
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E et al.
Human Mutation, 2017
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P et al.
Pediatric Blood & Cancer, 2015
Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.
Taramasso L et al.
Journal of Clinical Immunology, 2014
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M et al.
Blood, 2013
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Kong XF et al.
Human Molecular Genetics, 2010
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S et al.
The Journal of Allergy and Clinical Immunology, 2008
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Filipe-Santos O et al.
Seminars in Immunology, 2006
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE et al.
Lancet (london, England), 0
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