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

Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale; Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)

doi:10.1016/j.waojou.2021.100513

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

World Allergy Organ J. 2021 Feb 22;14(2):100513. doi: 10.1016/j.waojou.2021.100513. eCollection 2021 Feb.

Authors

Riccardo Castagnoli^{1

2

3}, Vassilios Lougaris⁴, Giuliana Giardino⁵, Stefano Volpi⁶, Lucia Leonardi⁷, Francesco La Torre⁸, Silvia Federici⁹, Stefania Corrente¹⁰, Bianca Laura Cinicola^{7

11}, Annarosa Soresina¹², Caterina Cancrini^{13

14}, Gian Luigi Marseglia^{1

2}, Fabio Cardinale⁸; Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)

Affiliations

¹ Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
² Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
³ Department of Molecular Medicine, University of Pavia, Pavia, Italy.
⁴ Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.
⁵ Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
⁶ Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genoa, Italy.
⁷ Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
⁸ Department of Pediatrics, Giovanni XXIII Pediatric Hospital, Bari, Italy.
⁹ Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
¹⁰ Division of Pediatrics, S. Camillo-Forlanini hospital, Rome Italy.
¹¹ Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
¹² Unit of Pediatric Immunology, Pediatrics Clinic, University of Brescia, ASST-Spedali Civili Brescia, Brescia, Italy.
¹³ Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
¹⁴ Academic Department of Pediatrics, Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies, Bambino Gesù; Children's Hospital, IRCCS, Rome, Italy.

Abstract

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.

Keywords: Allergy; Atopic phenotypes; Atopy; Inborn errors of immunity; Primary immunodeficiency.

Publication types

Review