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
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.
Backwell L et al.
Annual Review of Genomics and Human Genetics, 2022
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA et al.
Journal of Clinical Immunology, 2020
A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.
Bandari AK et al.
Frontiers in Immunology, 2019
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C et al.
Human Molecular Genetics, 2018
Immunological aspects of congenital disorders of glycosylation (CDG): a review.
Monticelli M et al.
Journal of Inherited Metabolic Disease, 2016
Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.
Blouin CM et al.
Cell, 2016
Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.
Rudko AA et al.
Tuberculosis (edinburgh, Scotland), 2015
Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.
Lyons JJ et al.
Frontiers in Pediatrics, 2015
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R et al.
Journal of Clinical Immunology, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 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
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF et al.
Human Molecular Genetics, 2013
Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.
Kilic SS et al.
The Journal of Infection, 2012
Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes.
Mazumder R et al.
Plos One, 2012
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
Waite A et al.
Human Mutation, 2011
Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness.
de Paus RA et al.
Genes and Immunity, 2011
New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals.
Hu H et al.
Current Opinion in Allergy and Clinical Immunology, 2008
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S et al.
The Journal of Allergy and Clinical Immunology, 2008
Genetically determined susceptibility to mycobacterial infection.
Patel SY et al.
Journal of Clinical Pathology, 2008
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Vogt G et al.
The Journal of Experimental Medicine, 2008
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
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
[Genetic predisposition and children infectious disease].
Picard C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2006
Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.
Mansouri D et al.
European Journal of Pediatrics, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G et al.
Nature Genetics, 2005