TY - JOUR
T1 - Inborn errors of immunity with atopic phenotypes
T2 - A practical guide for allergists
AU - Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)
AU - Castagnoli, Riccardo
AU - Lougaris, Vassilios
AU - Giardino, Giuliana
AU - Volpi, Stefano
AU - Leonardi, Lucia
AU - La Torre, Francesco
AU - Federici, Silvia
AU - Corrente, Stefania
AU - Cinicola, Bianca Laura
AU - Soresina, Annarosa
AU - Cancrini, Caterina
AU - Marseglia, Gian Luigi
AU - Cardinale, Fabio
N1 - Funding Information:
This work was fully supported by the Italian Society of Pediatric Allergy and Immunology (SIAIP).
Funding Information:
This is a work of the Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP). RC is supported by the Fellowship “Progressi in Biologia e Medicina” from Fondazione Ghislieri, Collegio Ghislieri, Pavia, Italy.
Publisher Copyright:
© 2021 The Author(s)
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/2
Y1 - 2021/2
N2 - 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.
AB - 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.
KW - Allergy
KW - Atopic phenotypes
KW - Atopy
KW - Inborn errors of immunity
KW - Primary immunodeficiency
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U2 - 10.1016/j.waojou.2021.100513
DO - 10.1016/j.waojou.2021.100513
M3 - Review article
AN - SCOPUS:85101117218
VL - 14
JO - World Allergy Organization Journal
JF - World Allergy Organization Journal
SN - 1939-4551
IS - 2
M1 - 100513
ER -