A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG disease
Espinosa-Padilla S, Gómez-Tello H, Sanchez-Flores C, Pérez-Blanco U, Cova-Guzmán T, Boisson-Dupuis S, Bustamante J, Blancas-Galicia L
Journal of human immunity · 2025-06
Abstract
A homozygous deleterious IFN-γR1 variant (c.672G>A) was identified in a child with Mycobacterium tuberculosis infection and erythroderma. This case demonstrates that complete autosomal recessive IFN-γR1 deficiency can present with tuberculosis resembling BCG disease in endemic regions.