ENT perspectives on diagnosing, treating, and managing patients with primary immunodeficiencies: a US survey

Introduction: Primary immunodeficiency disorders (PIDD) are caused by inherited defects in the immune system. Patients with PIDD can present recurrent or chronic ear, nose, and throat infections. Early diagnosis prevents complications, improving morbidity and quality of life.

Aim: To assess ear, nose, and throat specialists’ (ENT) awareness and experience diagnosing and treating PIDDs.

Methods: A US national blinded survey with 34 questions evaluated ENTs’ experience identifying and treating patients with PIDD, collaboration with other specialists, challenges, and interest in educational opportunities associated with PIDD.

Results: 50 US-based ENT participated and were distributed across all regions and settings. Most ENT (74%) encountered patients with PIDD with frequent, severe, and/or unusual infections. However, only 20% adhered to specific guidelines, 12% were aware of recent studies, and at least 20% never engaged with PIDD educational opportunities. Overall, 72% of ENT diagnosed patients with PIDD in the last 5 years. ENT preferred intravenous immunoglobulin therapy (65%) and frequently used prophylactic antibiotics. Ig efficacy was assessed by infection frequency (89%), symptom improvement (74%) and severity of infections (61%). Most respondents (89%) tested IgG levels, followed by CBC (74%) and IgM (68%), but only 50% knew target trough IgG levels and dosing schedules. ENT referred patients with PIDD to clinical immunologists rather than hematologists. With 60% of ENT based in non-urban regions, challenges included limited access to specialist referral, financial obstacles and knowledge gaps to manage PIDD. 46% of patients covered their treatment by commercial insurance. 70% of ENT discussed therapy’s purpose with patients. Respondents were moderately interested in case-based learning formats for PIDD education.

Conclusions: Despite frequently encountering patients with PIDD, many ENT lack guideline awareness and confidence in management, especially in non-urban settings. Addressing these gaps through targeted, case-based education would improve early diagnosis and patient outcomes.