Awareness of inborn errors of immunity among pediatricians and pediatric residents in Turkey: a cross-sectional survey

Introduction
Inborn errors of immunity (IEI), caused by germline variants in single genes, represent a group of over 400 disorders. Early diagnosis is essential to prevent severe infections and improve quality of life.

Aim
This study aims to evaluate the awareness and knowledge of IEI among pediatricians and pediatric residents in Turkey.

Material and methods
A cross-sectional survey was conducted between August and October 2024 among pediatricians and pediatric residents working in different regions of Turkey. A structured questionnaire was distributed via email and phone. The questionnaire included demographic information, awareness of the 10 warning signs of IEI, diagnostic tests, and treatment options.

Results
A total of 164 participants, mostly female (54.9%), completed the survey. The majority were pediatric specialists (70.8%) and aged 31–40 years (45.1%). Over half of the participants reported they had never diagnosed or followed IEI cases, and many expressed difficulty managing such patients. While 75% emphasized the need for post-graduation training on IEI, the self-assessed knowledge score (VAS 0–10) had a median of 4. Most participants were aware that IEI is not exclusive to childhood or consanguineous marriages. The most recognized warning sign was recurrent otitis media (≥ 4 per year). The most commonly known diagnostic tests were serum immunoglobulin levels, lymphopenia, and flow cytometry. Hematopoietic stem cell transplantation, antimicrobial prophylaxis, and immunoglobulin replacement were the most recognized treatment options.

Conclusions
This study highlights the limited awareness of IEI among pediatricians and residents in Turkey. Postgraduate training and national awareness campaigns are necessary to improve early diagnosis and patient outcomes.