The following is a summary of “Validating Inborn Error of Immunity Prevalence and Risk with Nationally-Representative EHR Data,” published in the January 2024 issue of Allergy and Immunology by Rider et al.
In this cohort study, the investigators aimed to evaluate the diagnostic utility of the 10 Warning Signs (WS) of Primary Immunodeficiency, established three decades ago for recognizing inborn errors of immunity (IEI), by applying them to electronic health record (EHR) data in a highly representative real-world US cohort. Additionally, the study group sought to estimate the prevalence of IEI in the United States. Leveraging normalized and de-identified EHR data from 152 million individuals, the researchers identified an IEI cohort (n=41,080) based on having at least one verifiable IEI diagnosis recorded ≥2 times in their EHR. They compared it to a matched set of controls (n=250,262). Encoding WS along with relevant diagnoses, the study group calculated relative weights and compared the proportion of individuals with 2+ WS in the IEI cohort versus controls.
The results revealed a significant difference in the proportion of IEI patients with 2+ warning signs compared to controls (0.33 vs. 0.031; p < 0.0005, x2). Furthermore, researchers estimated the prevalence of IEI in the US to be 6 per 10,000 individuals (41,080/73,165,655; 0.056%). Notably, among the IEI cohort, Warning Signs 9 (2+ deep-seated infections), 7 (fungal infections), 5 (failure to thrive), and 4 (2+ cases of pneumonia in 1 year) carried the highest relative weights. This nationally representative US-based cohort study underscores the utility of WS presence and associated clinical diagnoses in aiding the identification of IEI patients through EHR data.
Moreover, their estimate suggests that approximately 6 in 10,000 individuals, equivalent to 150-200,000 persons across the US, are affected by IEI.
Source: sciencedirect.com/science/article/abs/pii/S0091674924000782