ReviewFrontiers in immunology2025
Building alliances for early detection of immunodeficiencies: from primary care to hematology.
Review in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
3 authors.
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Abstract
Inborn errors of immunity (IEI), also known as primary immunodeficiencies, are a heterogeneous group of rare disorders characterized by increased susceptibility to infections, immune dysregulation, and malignancy. Early detection remains a major challenge due to the complexity of clinical presentations, limited awareness among non-specialists, and delayed diagnostic pathways. This review explores current strategies to enhance early detection of IEI, highlighting both technological innovations and clinical insights. Tools such as newborn screening, the Jeffrey Modell Foundation (JMF) warning signs, software like SPIRIT, and the PIDCAP project-a structured model designed for primary care implementation using ICD-coded clinical data- have shown promise in identifying at-risk patients. Artificial intelligence (AI) offers additional potential by detecting diagnostic patterns in electronic health records, although challenges related to data quality, heterogeneity, and system interoperability persist. Importantly, hematologic manifestations such as autoimmune cytopenias, lymphoproliferative disorders, and myelodysplastic syndromes often precede or accompany IEI and should prompt immunological evaluation. These conditions, frequently encountered in hematology, may serve as early clinical clues and justify genetic and immunophenotypic assessment. A multidisciplinary approach combining primary care, immunology, hematology, and AI technologies is essential to advance the early detection of IEI. Projects like PIDCAP, and their potential extension to secondary immunodeficiencies, exemplify scalable, patient-centered strategies that may significantly improve diagnostic timeliness and clinical outcomes.
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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 Socratic graph.