Inborn errors of immunity awareness among physicians: multicenter data from Turkiye

Abstract

Objective: To assess the awareness, diagnostic approach, and perceived barriers related to inborn errors of immunity (IEIs) among physicians caring for pediatric patients in Turkiye. Methods: In this cross-sectional online survey (July-October 2025), 488 physicians completed a 44-item questionnaire covering ten domains, including demographics, IEI-related education, recognition of clinical warning signs, use of immunologic tests, referral patterns, and perceived barriers. Participants comprised pediatric specialists, pediatric residents, pediatric subspecialty fellows/attendings, family medicine specialists/residents, and general practitioners. Descriptive statistics were calculated, and group comparisons were performed using the chi-square test (p<0.05). Results: The mean age of participants was 33.7 +/- 6.5 years; 61.9% worked in university or training and research hospitals. Overall, 63.5% had previously evaluated a child with IEI, but independent diagnosis was mainly confined to pediatric subspecialists (57.4%) and pediatricians (47.4%), and was rare among family physicians and general practitioners (3-6%). Recognition of IEI-associated clinical features showed a clear specialty gradient: pediatric subspecialists consistently achieved the highest scores across infectious, autoimmune/inflammatory, dermatologic, neurological/syndromic, and growth/genetic domains, whereas family physicians and general practitioners demonstrated significantly lower recognition (p<0.001 across domains). Only 52.7% of physicians had heard of the Jeffrey Modell warning signs; however, 82% expressed their willingness to receive further IEI-focused education. Major reported barriers included limited laboratory capacity, insufficient training, difficult access to immunology specialists, and complex referral pathways. Conclusion: Substantial gaps in IEI knowledge and diagnostic practices exist, particularly in non-infectious domains and among primary care physicians in Turkiye. Targeted educational programs, improved access to immunologic testing, and streamlined referral pathways are urgently needed to facilitate earlier recognition and better outcomes for children with suspected IEI.