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

Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)

Research output: Contribution to journalReview articlepeer-review


Inborn errors of immunity (IEI) are a heterogeneous group of disorders, mainly resulting from mutations in genes associated with immunoregulation and immune host defense. These disorders are characterized by different combinations of recurrent infections, autoimmunity, inflammatory manifestations, lymphoproliferation, and malignancy. Interestingly, it has been increasingly observed that common allergic symptoms also can represent the expression of an underlying immunodeficiency and/or immune dysregulation. Very high IgE levels, peripheral or organ-specific hypereosinophilia, usually combined with a variety of atopic symptoms, may sometimes be the epiphenomenon of a monogenic disease. Therefore, allergists should be aware that severe and/or therapy-resistant atopic disorders might be the main clinical phenotype of some IEI. This could pave the way to target therapies, leading to better quality of life and improved survival in affected patients.

Original languageEnglish
Article number100513
JournalWorld Allergy Organization Journal
Issue number2
Publication statusPublished - Feb 2021


  • Allergy
  • Atopic phenotypes
  • Atopy
  • Inborn errors of immunity
  • Primary immunodeficiency

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Pulmonary and Respiratory Medicine


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