Breakthrough: Genetic Mutation Linked to Tuberculosis Susceptibility Unveiled

Researchers at The Rockefeller University identified a genetic mutation heightening tuberculosis risk while sparing other infections. Published in 'Nature,' this discovery challenges established beliefs about the immune system and TNF's role, potentially reshaping treatment approaches for TB and inflammatory diseases.

A groundbreaking study by researchers at The Rockefeller University has revealed a genetic mutation that significantly increases susceptibility to tuberculosis (TB) without affecting the risk for other infectious diseases. This revelation, recently published in 'Nature,' challenges longstanding assumptions about the immune system and the role of tumor necrosis factor (TNF).

The study, spearheaded by Stephanie Boisson-Dupuis and Jean-Laurent Casanova, identified a specific genetic cause of TNF deficiency. The deficiency incapacitates an immune process in the lungs, making carriers more prone to severe, TB-specific illnesses. This finding suggests that TNF's role in immune response may be more limited than previously believed, with significant clinical implications.

Casanova's lab, which has focused on the genetic causes of TB for over 20 years, identified rare genetic mutations that make individuals vulnerable to this disease. By analyzing a wide network of exome sequences, they discovered the mutation affecting TNF's function, clarifying why TNF inhibitors increase TB risks. These insights could transform treatment strategies for autoimmune disorders, directing attention toward other pro-inflammatory cytokines instead of TNF.

(With inputs from agencies.)