Lessons from the ACAAI IEI Survey: Advancing Diagnostic and Therapeutic Strategies for the Practicing Allergist-Immunologist.

Background: Inborn errors of immunity (IEI) have been increasingly well characterized on the molecular and genetic levels. Their clinical recognition and management among practicing allergist-immunologists remain challenging.

Objective: To evaluate the consultative practices of allergist-immunologists in diagnosing and managing IEIs by identifying subtypes encountered, current approaches, multidisciplinary collaboration, barriers, and educational needs.

Methods: The American College of Allergy, Asthma, and Immunology distributed a 30-question web-based survey assessing IEI experience via SurveyMonkey to U.S.-based members over a four-week period during the spring of 2024.

Results: Most IEI consultations originated from outpatient primary care settings (82%), with 56% of respondents providing both outpatient and inpatient consultations. Frequently encountered IEIs included common variable immunodeficiency (CVID) (100%), specific antibody deficiency (99%), selective IgA deficiency (97%), and C1 esterase inhibitor deficiency (90%). Less frequently encountered were Chediak-Higashi syndrome (40.5%) and type I interferonopathies (41%). The greatest need for subspecialty input was from hematology/oncology for quantitative phagocyte cell defects (89%) and ALPS-FAS (74%). Severe combined immunodeficiency (SCID) and defects of cytotoxicity (50%) most often required expert immunology consultation. The top educational priorities were genetic testing (61%) and gene therapy (60%). The major barriers were complexity and wide range of IEIs (39%) and low referral volume (36%). Comfort levels and need for knowledge varied significantly by practice type and clinician age. A major limitation of this study was the over representation of academic practitioners.

Conclusion: This ACAAI study provides insight into the current consultative practices and management of allergist-immunologists engaging in IEI care. These findings highlight the critical need for enhanced training, improved access to multidisciplinary support, and targeted continuing education to optimize care for patients with these complex disorders.