Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy
Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. While IEIs traditionally present with recurrent infections, an increasing number of cases manifest with early-onset severe atopy,...
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MDPI AG
2025-01-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/61/1/62 |
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| author | Nipat Chuleerarux Nadia Makkoukdji Travis Satnarine Jessica Elise Kuhn Tanawin Nopsopon Peerada Valyasevi Fernanda Bellodi Schmidt Gary Kleiner Melissa Gans |
| author_facet | Nipat Chuleerarux Nadia Makkoukdji Travis Satnarine Jessica Elise Kuhn Tanawin Nopsopon Peerada Valyasevi Fernanda Bellodi Schmidt Gary Kleiner Melissa Gans |
| author_sort | Nipat Chuleerarux |
| collection | DOAJ |
| description | Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. While IEIs traditionally present with recurrent infections, an increasing number of cases manifest with early-onset severe atopy, including atopic dermatitis, food allergies, asthma, and allergic rhinitis—features that are often overlooked. This can lead to delayed diagnosis and treatment, which is crucial for IEI patients due to the risk of severe infections. We conducted a literature search and reviewed all IEIs that can present with early-onset severe atopy. The hallmark features of these disorders often include early-onset, persistent, and severe atopic dermatitis, food allergies, and recurrent episodes of asthma, which may be refractory to treatments. Additionally, we discuss the importance of recognizing such severe atopy as a potential indicator of an underlying immune deficiency, particularly when accompanied by unusual infections, growth failure, or autoimmunity. This review aims to raise awareness of this association and emphasize the need for early diagnosis and genetic testing in patients with atypical or treatment-resistant allergic diseases, allowing for more timely diagnosis of underlying immunodeficiencies and appropriate treatments. |
| format | Article |
| id | doaj-art-cb19e4258c4c4d4ab4c60cec103a177f |
| institution | Kabale University |
| issn | 1010-660X 1648-9144 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj-art-cb19e4258c4c4d4ab4c60cec103a177f2025-01-24T13:40:26ZengMDPI AGMedicina1010-660X1648-91442025-01-016116210.3390/medicina61010062Inborn Errors of Immunity Presenting with Early-Onset Severe AtopyNipat Chuleerarux0Nadia Makkoukdji1Travis Satnarine2Jessica Elise Kuhn3Tanawin Nopsopon4Peerada Valyasevi5Fernanda Bellodi Schmidt6Gary Kleiner7Melissa Gans8Department of Internal Medicine, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USADepartment of Pediatrics, Jackson Memorial Holtz Children’s Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USADepartment of Pediatrics, Jackson Memorial Holtz Children’s Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USADepartment of Pediatrics, Jackson Memorial Holtz Children’s Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USADivision of Allergy and Clinical Immunology, Brigham and Women’s Hospital, Boston, MA 02115, USAFaculty of Medicine, Chulalongkorn University, Bangkok 10330, ThailandDr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL 33136, USADivision of Allergy/Immunology, Department of Pediatrics, Jackson Memorial Holtz Children’s Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USADivision of Allergy/Immunology, Department of Pediatrics, Jackson Memorial Holtz Children’s Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USAInborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. While IEIs traditionally present with recurrent infections, an increasing number of cases manifest with early-onset severe atopy, including atopic dermatitis, food allergies, asthma, and allergic rhinitis—features that are often overlooked. This can lead to delayed diagnosis and treatment, which is crucial for IEI patients due to the risk of severe infections. We conducted a literature search and reviewed all IEIs that can present with early-onset severe atopy. The hallmark features of these disorders often include early-onset, persistent, and severe atopic dermatitis, food allergies, and recurrent episodes of asthma, which may be refractory to treatments. Additionally, we discuss the importance of recognizing such severe atopy as a potential indicator of an underlying immune deficiency, particularly when accompanied by unusual infections, growth failure, or autoimmunity. This review aims to raise awareness of this association and emphasize the need for early diagnosis and genetic testing in patients with atypical or treatment-resistant allergic diseases, allowing for more timely diagnosis of underlying immunodeficiencies and appropriate treatments.https://www.mdpi.com/1648-9144/61/1/62inborn errors of immunityprimary immune deficienciesatopyatopic dermatitis |
| spellingShingle | Nipat Chuleerarux Nadia Makkoukdji Travis Satnarine Jessica Elise Kuhn Tanawin Nopsopon Peerada Valyasevi Fernanda Bellodi Schmidt Gary Kleiner Melissa Gans Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy Medicina inborn errors of immunity primary immune deficiencies atopy atopic dermatitis |
| title | Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy |
| title_full | Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy |
| title_fullStr | Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy |
| title_full_unstemmed | Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy |
| title_short | Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy |
| title_sort | inborn errors of immunity presenting with early onset severe atopy |
| topic | inborn errors of immunity primary immune deficiencies atopy atopic dermatitis |
| url | https://www.mdpi.com/1648-9144/61/1/62 |
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