Objective:

To characterize the clinical features and management strategies for AIGA-associated immunodeficiency.

Approach:

• Data Collection: Comprehensive baseline data were collected, including demographic characteristics, medical history, physical examination findings, and laboratory investigations such as enzyme-linked immunoassay (ELISA) for autoantibodies.

Key Findings:

• AIGA immunodeficiency is characterized by anti-interferon-γ autoantibodies leading to increased susceptibility to nontuberculous mycobacteria and other opportunistic pathogens, particularly in East Asian populations.
• The condition is often underdiagnosed and presents typically in adulthood, especially among individuals of Chinese, Thai, and Japanese descent.
• Rituximab has been used off-label for treatment, showing clinical improvement in small case series.

Interpretation:

The study highlights the need for increased clinical awareness and standardized testing protocols for AIGA immunodeficiency to improve diagnosis and treatment outcomes.

Limitations:

• The rarity of AIGA immunodeficiency leads to underdiagnosis and limited clinical awareness, impacting timely treatment.
• Evidence for treatment efficacy is based on small case series without formal clinical trials.

Conclusion:

The AIGA-PROTECT registry aims to enhance understanding and management of AIGA immunodeficiency through systematic data collection and analysis.