Inborn errors of immunity with atopic phenotype: what we know so far

Area of Science:

• Immunology
• Genetics
• Allergy

Background:

• Inborn errors of immunity with atopic phenotypes (IEIwA) are increasingly recognized monogenic disorders.
• These conditions present with severe allergic symptoms, bridging immunodeficiency and atopy.
• They pose significant diagnostic and therapeutic challenges.

Purpose of the Study:

• To synthesize recent advancements in the understanding of IEIwA.
• To review immunogenetic mechanisms, diagnostic red flags, and therapeutic strategies.
• To highlight the need for improved clinical management.

Main Methods:

• Literature search of PubMed (2021-2024) for recent IEIwA advancements.
• Categorization of IEIwA by pathophysiological pathways.
• Review of genomic technologies and emerging therapies.

Main Results:

• IEIwA mechanisms include impaired T cell signaling, cytokine dysregulation, and metabolic abnormalities.
• Genomic technologies refine IEIwA classification and recognition.
• Targeted therapies and HSCT offer new treatment avenues.

Conclusions:

• Heightened awareness and early recognition of IEIwA are essential.
• Tailored management strategies are needed to improve patient outcomes.
• Differentiating monogenic IEIwA from multifactorial allergies requires careful evaluation.