Inborn errors of immunity with atopic phenotypes: A practical guide for allergists
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, l...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-02-01
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| Series: | World Allergy Organization Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1939455121000077 |
| _version_ | 1823928337080254464 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Riccardo Castagnoli |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T20:52:39Z |
| format | Article |
| id | doaj.art-73c4006e1907427992636e678f5d225f |
| institution | Directory Open Access Journal |
| issn | 1939-4551 |
| language | English |
| last_indexed | 2024-12-16T20:52:39Z |
| publishDate | 2021-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | World Allergy Organization Journal |
| spelling | doaj.art-73c4006e1907427992636e678f5d225f2022-12-21T22:16:45ZengElsevierWorld Allergy Organization Journal1939-45512021-02-01142100513Inborn errors of immunity with atopic phenotypes: A practical guide for allergistsRiccardo Castagnoli0Vassilios Lougaris1Giuliana Giardino2Stefano Volpi3Lucia Leonardi4Francesco La Torre5Silvia Federici6Stefania Corrente7Bianca Laura Cinicola8Annarosa Soresina9Caterina Cancrini10Gian Luigi Marseglia11Fabio Cardinale12Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy; Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, ItalyPediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, ItalyCenter for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genoa, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Pediatrics, Giovanni XXIII Pediatric Hospital, Bari, ItalyDivision of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, ItalyDivision of Pediatrics, S. Camillo-Forlanini hospital, Rome ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Department of Experimental Medicine, Sapienza University of Rome, Rome, ItalyUnit of Pediatric Immunology, Pediatrics Clinic, University of Brescia, ASST-Spedali Civili Brescia, Brescia, ItalyDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Academic Department of Pediatrics, Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies, Bambino Gesù; Children's Hospital, IRCCS, Rome, ItalyPediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy; Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, ItalyDepartment of Pediatrics, Giovanni XXIII Pediatric Hospital, Bari, Italy; Corresponding author. Department of Pediatrics, Giovanni XXIII Pediatric Hospital, Bari, Italy.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.http://www.sciencedirect.com/science/article/pii/S1939455121000077Inborn errors of immunityPrimary immunodeficiencyAtopyAtopic phenotypesAllergy |
| spellingShingle | 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 Inborn errors of immunity with atopic phenotypes: A practical guide for allergists World Allergy Organization Journal Inborn errors of immunity Primary immunodeficiency Atopy Atopic phenotypes Allergy |
| title | Inborn errors of immunity with atopic phenotypes: A practical guide for allergists |
| title_full | Inborn errors of immunity with atopic phenotypes: A practical guide for allergists |
| title_fullStr | Inborn errors of immunity with atopic phenotypes: A practical guide for allergists |
| title_full_unstemmed | Inborn errors of immunity with atopic phenotypes: A practical guide for allergists |
| title_short | Inborn errors of immunity with atopic phenotypes: A practical guide for allergists |
| title_sort | inborn errors of immunity with atopic phenotypes a practical guide for allergists |
| topic | Inborn errors of immunity Primary immunodeficiency Atopy Atopic phenotypes Allergy |
| url | http://www.sciencedirect.com/science/article/pii/S1939455121000077 |
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