Abstract
Objective Interferon gamma receptor 1 (IFNGR1) deficiency is a primary immunodeficiency that
causes systemic infections with weakly virulent nontuberculous mycobacteria, which
are very difficult to control with combined antimycobacterial agents.
Methods Disseminated mycobacterial infection that could not be controlled with combined antimycobacterial
treatments in a 13-year-old patient with a novel mutation in the IFNGR1 gene. Despite
receiving intravenous antibiotic therapy, fever continued, bone involvement gradually
increased, and proteinuria and microscopic hematuria occurred. Peg-IFNα-2a was administered
as an adjuvant therapy that resulted in good clinical response with no side effects.
Fever improved and no new bone lesions occurred with edema of existing lesions regressing
after 2 weeks of peg-IFNα-2a therapy.
Conclusion Aggressive treatment with antimycobacterial antibiotics and hematopoietic stem cell
transplantation remains the single accepted method for the management of patients
with complete IFNGR1 deficiency. Peg-IFNα-2a treatment may be an adjunct treatment
in this disorder.
Keywords interferon gamma receptor 1 (IFNGR1) - interferon α-2a - Mendelian susceptibility
to mycobacterial disease - child
