Inborn Errors of Immunity Awareness Among Physicians: Multicenter Data from Türkiye

Öz

Objective: To assess the awareness, diagnostic approach, and perceived barriers related to inborn errors of immunity (IEIs) among physicians caring for pediatric patients in Türkiye.

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 Türkiye. 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.

Anahtar Kelimeler

• Inborn Errors of Immunity
• Primary Immunodeficiency
• Clinical Decision-Making
• Physician Awareness
• Diagnostic Delays

Kaynakça

1. Poli MC, Aksentijevich I, Bousfiha AA, Cunningham-Rundles C, Hambleton S, Klein C, et al. Human Inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. Journal of Human Immunity. 2025;1(1):e20250003. google scholar
2. Yuksek M, Ikinciogullari A, Dogu F, Elhan A, Yuksek N, Reisli I, et al. Primary immune deficiency disease awareness among a group of Turkish physicians. Turk J Pediatr. 2010;52(4):372-7. google scholar
3. Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International Consensus Document: Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract. 2016;4(1):38-59. google scholar
4. Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42(7):1508-20. google scholar
5. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-507. google scholar
6. Hariyan T, Kinash M, Kovalenko R, Boyarchuk O. Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study. PLoS One. 2020;15(5):e0233342. google scholar
7. Imai K, Oh A, Morishita A, Inoue Y. Physician awareness and understanding of primary immunodeficiency disorders: a web-based study in Japan. Immunology. 2023;46(1):45-57. google scholar
8. Takada H. Creating awareness for primary immunodeficiencies in Japan. Frontiers in Immunology. 2021;12:803459. google scholar

9. Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, et al. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunologic Research. 2011;51(1):61-70. google scholar
10. Davies EG. Infection in patients with primary immunodeficiency disorders. Curr Opin Infect Dis. 2000;13(4):349-53. google scholar
11. Boyarchuk O, Volyanska L, Kosovska T, Lewandowicz-Uszynska A, Kinash M. Awareness of primary immunodeficiency diseases among medical students. Georgian Med News. 2018;28(5):124-30 google scholar
12. Dantas EO, Aranda CS, Rego Silva AM, Tavares FS, Severo Ferreira JF, de Quadros Coelho MA, et al. Doctors’ awareness concerning primary immunodeficiencies in Brazil. Allergy Immunopathol. 2015;43(3):272-8. google scholar
13. Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;127(5):810-6. google scholar
14. Nourijelyani K, Aghamohammadi A, Salehi Sadaghiani M, Behniafard N, Abolhassani H, Pourjabar S, et al. Physicians awareness on primary immunodeficiency disorders in Iran. Iran J Allergy Asthma Immunol. 2012;11(1):57-64. google scholar
15. Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763-70. google scholar