Associated Papers
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
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
Human primary immunodeficiencies causing defects in innate immunity.
Wong T et al.
Current Opinion in Allergy and Clinical Immunology, 2013
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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