New tools for diagnosis of primary immunodeficiencies: from awareness to artificial intelligence

Primary immune deficiencies (PI) are rare diseases associated with frequent, severe infections, inflammatory and autoimmune diseases and/or cancer. Because of the variability in presentation, undiagnosed PI patients can be encountered by many different medical specialists. A lack of awareness of and the rarity of PI can lead to delayed diagnosis particularly among primary care physicians and non-immunology specialists. These delays can lead to irreversible sequelae, decreased quality of life and premature mortality. In this review, we describe two projects designed to decrease the time to diagnosis in PI patients: 1) the expert-driven PIDCAP project conducted in Spain to promote early diagnosis in the primary care setting, and 2) a multi-modal data-driven approach using artificial intelligence and machine learning to identify individuals at high risk for PI. Both approaches aim to create widely available tools to promote early diagnosis and treatment of PI. Initial results have been positive. Future directions include larger studies and potentially combining expert-driven and data-driven approaches.