Inborn errors of immunity with eosinophilia

Area of Science:

• Immunology
• Genetics
• Allergy

Background:

• Inborn errors of immunity (IEIs) are monogenic disorders affecting immune function.
• Over 400 IEIs are known, with rapid diagnostic advancements via next-generation sequencing.
• IEIs can lead to infections, cancer, and immune dysregulation, including inflammatory, autoimmune, and atopic diseases.

Purpose of the Study:

• To highlight the significance of IEIs in patients presenting with eosinophilia and atopic diseases.
• To emphasize the diagnostic challenges posed by eosinophilia in clinical practice.
• To underscore the importance of identifying IEIs for effective management of allergic phenotypes.

Main Methods:

• Review of existing literature on IEIs, eosinophilia, and allergic diseases.
• Analysis of clinical presentations linking IEIs to allergic manifestations.
• Discussion of diagnostic approaches and etiological research in eosinophilia.

Main Results:

• IEIs are an important, though often overlooked, cause of secondary eosinophilia.
• A significant association exists between IEIs, eosinophilia, and atopic diseases.
• Early recognition of IEIs in allergic patients improves diagnostic timelines.

Conclusions:

• Identifying IEIs in the context of eosinophilia and allergies is critical for patient management.
• Understanding the role of IEIs in allergic diseases offers insights into immune pathogenesis.
• Prompt diagnosis and targeted treatment of IEIs can modulate disease mechanisms and improve outcomes.