Research Project for Disseminated
Nontuberculous Mycobacterial Disease: Overview

While disseminated nontuberculous mycobacterial (dNTM) disease has traditionally been associated with HIV infection and immunosuppressive therapy, recent attention has focused on Adult-onset Immunodeficiency (AOID), a condition characterized by anti-interferon gamma autoantibodies that causes dNTM disease in adults without apparent immunodeficiency. The pathogenic mechanism of autoantibody production remains elusive, and the path to diagnosis is often prolonged, with no established therapeutic guidelines currently available. This ultra-rare disease has been diagnosed in approximately 100 cases within Japan, with very few physicians having clinical experience in its management. The consolidation of clinical data is imperative for improving AOID patient care.

Our research aims to elucidate the pathophysiology of AOID and establish clinical guidelines through three primary objectives: determining the epidemiological profile of dNTM disease, developing a comprehensive disease registry, and establishing a specimen repository.