Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy

Area of Science:

• Immunology
• Genetics
• Allergy

Background:

• Inborn errors of immunity (IEIs), or primary immunodeficiencies, are genetic disorders impacting immune system development and function.
• While infections are typical, IEIs increasingly manifest with severe early-onset atopy (eczema, food allergies, asthma), often leading to delayed diagnosis.
• Delayed diagnosis in IEI patients increases risks of severe infections.

Purpose of the Study:

• To review Inborn Errors of Immunity (IEIs) that present with early-onset severe atopy.
• To highlight the importance of recognizing severe atopy as a potential indicator of underlying immune deficiency.
• To emphasize the need for early diagnosis and genetic testing in patients with atypical allergic diseases.

Main Methods:

• Literature search for IEIs presenting with early-onset severe atopy.
• Review of clinical features associated with these IEIs.
• Discussion of diagnostic implications and treatment considerations.

Main Results:

• Certain IEIs characteristically present with early-onset, persistent, and severe atopic dermatitis, food allergies, and refractory asthma.
• Severe atopy can be an early sign of immune deficiency, especially with concurrent infections, growth issues, or autoimmunity.

Conclusions:

• Severe early-onset atopy should prompt consideration of underlying Inborn Errors of Immunity (IEIs).
• Early diagnosis and genetic testing are crucial for patients with treatment-resistant or atypical allergic conditions.
• Timely identification of IEIs enables appropriate management and reduces risks of severe infections.