Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
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
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.
Sharifinejad N et al.
Pediatric Rheumatology Online Journal, 2021
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
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
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
Ramirez-Alejo N et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 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
Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness.
de Paus RA et al.
Genes and Immunity, 2011
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
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
Partial interferon-gamma receptor deficiency and non-tuberculous mycobacterial lung disease.
Hwang JH et al.
Tuberculosis (edinburgh, Scotland), 2006
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling.
Haverkamp MH et al.
Microbes and Infection, 2006
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G et al.
Nature Genetics, 2005
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Döffinger R et al.
Molecular Immunology, 2002
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
Döffinger R et al.
The Journal of Infectious Diseases, 2000