ArticleJournal of translational autoimmunity2023
Accuracy of generative artificial intelligence models in differential diagnoses of familial Mediterranean fever and deficiency of Interleukin-1 receptor antagonist.
Article in Journal of translational autoimmunity, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- Comparing Diagnostic Accuracy of Clinical Professionals and Large Language Models: Systematic Review and Meta-Analysis.JMIR medical informatics · 2025Pooled it
- A systematic review on the generative AI applications in human medical genetics.Frontiers in genetics · 2025Pooled it
- LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report.EULAR rheumatology open · 2026Article
- Stepwise Diagnostic Evaluation of Chinese Large Language Models: Comparative Study of Common and Rare Diseases.Journal of medical Internet research · 2026Article
- A Narrative Review on Integrative Bioinformatics Approaches for microRNA Research in Familial Mediterranean Fever: Current Insights and Future Directions.Health science reports · 2026Article
- What Large Language Models offer about Familial Mediterranean Fever: An Analysis of Quality, Readability, Completeness, and Accuracy.Mediterranean journal of rheumatology · 2025Article
- Comparative evaluation of ChatGPT and LLaMA for reliability, quality, and accuracy in familial Mediterranean fever.European journal of pediatrics · 2025Article
- A systematic review and meta-analysis of diagnostic performance comparison between generative AI and physicians.NPJ digital medicine · 2025Article
- Preliminary analysis of the impact of lab results on large language model generated differential diagnoses.NPJ digital medicine · 2025Article
- Let's ask the patient: disease prediction based on patients' symptom descriptions in free text.Rheumatology advances in practice · 2025Article
- Qualitative metrics from the biomedical literature for evaluating large language models in clinical decision-making: a narrative review.BMC medical informatics and decision making · 2024Review
- Article
- Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.Pediatric rheumatology online journal · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the increasing development of artificial intelligence, large language models (LLMs) have been utilized to solve problems in natural language processing tasks. More recently, LLMs have shown unique potential in numerous applications within medicine but have been particularly investigated for their ability in clinical reasoning. Although the diagnostic accuracy of LLMs in forming differential diagnoses has been reviewed in general internal medicine applications, much is unknown in autoinflammatory disorders. From the nature of autoinflammatory diseases, forming a differential diagnosis is challenging due to the overlapping symptoms between disorders and even more difficult without genetic screening. In this work, the diagnostic accuracy of the Generative Pre-Trained Transformer Model-4 (GPT-4), GPT-3.5, and Large Language Model Meta AI (LLaMa) were evaluated in clinical vignettes of Deficiency of Interleukin-1 Receptor Antagonist (DIRA) and Familial Mediterranean Fever (FMF). We then compared these models to a control group including one internal medicine physician. It was found that GPT-4 did not significantly differ in correctly identifying DIRA and FMF patients compared to the internist. However, the physician maintained a significantly higher accuracy than GPT-3.5 and LLaMa 2 for either disease. Overall, we explore and discuss the unique potential of LLMs in diagnostics for autoimmune diseases.
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