A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

doi:10.1093/hmg/ddy275

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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Human molecular genetics - 15 Nov 2018

Oleaga-Quintas Carmen, Deswarte Caroline, Moncada-Vélez Marcela, Metin Ayse, Krishna Rao Indumathi, Kanık-Yüksek Saliha, Nieto-Patlán Alejandro, Guérin Antoine, Gülhan Belgin, Murthy Savita, Özkaya-Parlakay Aslınur, Abel Laurent, Martínez-Barricarte Rubén, Pérez de Diego Rebeca, Boisson-Dupuis Stéphanie, Kong Xiao-Fei, Casanova Jean-Laurent, Bustamante Jacinta

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi-allelic mutations of IFNGR2 can underlie partial or complete forms of IFN-γ receptor 2 (IFN-γR2)...

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PMID: 31222290
DOI: 10.1093/hmg/ddy275
PMCID: PMC6216222

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IFNGR2

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