Abstract
PURPOSE: This study aimed to investigate and elucidate the clinical characteristics, immune status, infection types and patterns, treatment responses, and disease progression in patients with positive anti-interferon-gamma (IFN-γ) autoantibodies in combination with Mycobacterium infections. PATIENTS AND METHODS: We conducted a retrospective analysis of clinical data from patients with positive anti-IFN-γ autoantibodies and concurrent Mycobacterial infections, including Mycobacterial infections (MTB) and non-tuberculous mycobacteria (NTM). The study included cases treated at the Fourth People's Hospital of Nanning, Guangxi, from 2018 to 2023. Data collected comprised symptoms, clinical signs, laboratory test results, imaging findings, and other relevant clinical information. Patients were also followed up to evaluate treatment responses and long-term therapeutic outcomes. RESULTS: A total of 30 patients with MTB and NTM infections were analyzed. The majority presented with common symptoms, such as cough, sputum production, weight loss, extrapulmonary tuberculosis (TB), and a range of opportunistic infections. Laboratory and imaging studies revealed complex infection patterns and various pathological changes. Treatment primarily involved targeted anti-infective therapy combined with immunosupportive measures. However, frequent treatment relapses and side effects were observed, resulting in two deaths. CONCLUSION: Immune deficiency associated with positive anti-IFN-γ autoantibodies resembles the immunosuppression seen in advanced stages of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS), rendering patients highly susceptible to opportunistic infections. These infections were predominantly caused by NTM, followed by MTB and Talaromyces marneffei (TM). This represents a novel immune deficiency syndrome that predisposes patients to a spectrum of opportunistic infections.