ReviewFrontiers in immunology2025
New tools for diagnosis of primary immunodeficiencies: from awareness to artificial intelligence.
Review in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges.Healthcare (Basel, Switzerland) · 2026Review
- TCR γδ cell-specific STAT5 gain of function induces a druggable chronic human immune dysregulation.Journal of human immunity · 2026Article
- Article
- Building alliances for early detection of immunodeficiencies: from primary care to hematology.Frontiers in immunology · 2025Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.