Associated Papers
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
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
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE et al.
American Journal of Human Genetics, 2017
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
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
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