Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis

We encountered two patients with partial interferon gamma receptor 1 (IFN-gamma R1) deficiency in whom early diagnosis enhanced disease management. Patient 1 was a 44-year-old woman with enlarged lymph nodes diagnosed in a pre-pregnancy checkup, and pathological examination revealed a Mycobacterium avium infection. Based on her history of unknown multiple osteomyelitis during early childhood, mendelian susceptibility to mycobacterial disease was suspected. Genetic analysis revealed a novel heterozygous variant in IFNGR1. Genetic counseling was administered to the patient and her husband before they had their baby. Patient 2 was a 4-month-old boy whose father was previously diagnosed with autosomal dominant IFN-gamma R1 deficiency owing to Bacille de Calmette et Guerin (BCG) osteomyelitis. Genetic analysis showed that he had the same INFGR1 variant. He avoided BCG vaccination and has been disease-free since then. Early diagnosis is considered to be useful for genetic counseling and essential for preventing BCG osteomyelitis.

Automated summary

This study reports two cases of partial interferon gamma receptor 1 deficiency, highlighting the importance of early diagnosis for genetic counseling and disease prevention.