Inborn errors of immunity with atopic phenotypes: A practical guide for allergists

Area of Science:

• Immunology
• Genetics
• Allergy

Background:

• Inborn errors of immunity (IEI) encompass diverse genetic disorders affecting immune regulation and defense.
• IEI manifest with recurrent infections, autoimmunity, inflammation, lymphoproliferation, and malignancy.
• Allergic symptoms can sometimes indicate underlying immune dysregulation or immunodeficiency.

Purpose of the Study:

• To highlight the connection between allergic symptoms and inborn errors of immunity.
• To inform allergists about the potential for IEI to present as severe or therapy-resistant atopic conditions.
• To emphasize the importance of considering IEI in patients with complex allergic phenotypes.

Main Methods:

• Review of clinical observations and literature linking allergic symptoms to IEI.
• Analysis of specific IEI phenotypes that may mimic common allergic disorders.
• Discussion of diagnostic and therapeutic implications for allergists.

Main Results:

• High IgE levels and hypereosinophilia, alongside atopic symptoms, can be signs of monogenic IEI.
• Severe or treatment-resistant atopic conditions may represent the primary clinical presentation of certain IEI.
• Early recognition of IEI in allergic patients is crucial.

Conclusions:

• Allergists must consider IEI in patients with severe or refractory atopic diseases.
• Identifying IEI can enable targeted therapies, improving patient quality of life and survival.
• Increased awareness of IEI among allergists is essential for timely diagnosis and management.