Associated Papers
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK et al.
Journal of Clinical Immunology, 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
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 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 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
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
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