A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG disease
Sara Elva Espinosa‐Padilla, Héctor Gómez-Tello, C. Flores, Uriel Pérez-Blanco, Tiareth Cova-Guzmán, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Lizbeth Blancas‐Galicia
Journal of Human Immunity · 2025-05
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.
MeSH terms
- Tuberculosis
- Medicine
- Virology
- Immunology
- Biology