Hyper-IgE syndrome: A rare case report

Hyper-IgE syndrome (HIES) is a rare and sporadic primary immunodeficiency usually characterized by atopic dermatitis, recurrent skin staphylococcal infections, recurrent pulmonary infections, and elevated IgE levels. Due to the rarity of the syndrome and its nonspecific and wide presentation, the di...

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Main Authors: Lee Smith, PhD, Ahmed Rafei, MD, Susanna Caminada, MD, Salma Barakat, MD, Sami Medani Abd Elwahab, MD, Damiano Pizzol, PhD, Abdelmounem Eltayeb Abdo, PhD
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Journal of Allergy and Clinical Immunology: Global
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325001262
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author Lee Smith, PhD
Ahmed Rafei, MD
Susanna Caminada, MD
Salma Barakat, MD
Sami Medani Abd Elwahab, MD
Damiano Pizzol, PhD
Abdelmounem Eltayeb Abdo, PhD
author_facet Lee Smith, PhD
Ahmed Rafei, MD
Susanna Caminada, MD
Salma Barakat, MD
Sami Medani Abd Elwahab, MD
Damiano Pizzol, PhD
Abdelmounem Eltayeb Abdo, PhD
author_sort Lee Smith, PhD
collection DOAJ
description Hyper-IgE syndrome (HIES) is a rare and sporadic primary immunodeficiency usually characterized by atopic dermatitis, recurrent skin staphylococcal infections, recurrent pulmonary infections, and elevated IgE levels. Due to the rarity of the syndrome and its nonspecific and wide presentation, the diagnosis is difficult and arises with other diagnoses including other types of primitive chronic granulomatous disease or acquired immunodeficiency, severe atopic dermatitis, or cystic fibrosis or chronic respiratory infection as tuberculosis. To date, there is no gold standard management and treatments aim to relieve symptoms and avoid complications. We report on a 30-year-old female with a long-time misdiagnosed HIES.
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issn 2772-8293
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publishDate 2025-08-01
publisher Elsevier
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series Journal of Allergy and Clinical Immunology: Global
spelling doaj-art-4b139311fcfc4b56ad4bc7b6bc37fdc72025-08-20T03:01:41ZengElsevierJournal of Allergy and Clinical Immunology: Global2772-82932025-08-014310052510.1016/j.jacig.2025.100525Hyper-IgE syndrome: A rare case reportLee Smith, PhD0Ahmed Rafei, MD1Susanna Caminada, MD2Salma Barakat, MD3Sami Medani Abd Elwahab, MD4Damiano Pizzol, PhD5Abdelmounem Eltayeb Abdo, PhD6Centre for Health, Performance and Wellbeing, Anglia Ruskin University, Cambridge, United KingdomNational Centre of Gastrointestinal and Liver Disease, Ibn Sina Hospital, Khartoum, SudanHealth Unit Eni, Rome, ItalyNational Centre of Gastrointestinal and Liver Disease, Ibn Sina Hospital, Khartoum, SudanNational Centre of Gastrointestinal and Liver Disease, Ibn Sina Hospital, Khartoum, Sudan; Department of Surgery, University Hospital Galway, Galway, IrelandHealth Unit Eni, Maputo, Mozambique; Corresponding author: Damiano Pizzol, MD, PhD, Health Unit, Eni Mozambique, Rua dos Deportistads 733, 1113 Maputo.National Centre of Gastrointestinal and Liver Disease, Ibn Sina Hospital, Khartoum, SudanHyper-IgE syndrome (HIES) is a rare and sporadic primary immunodeficiency usually characterized by atopic dermatitis, recurrent skin staphylococcal infections, recurrent pulmonary infections, and elevated IgE levels. Due to the rarity of the syndrome and its nonspecific and wide presentation, the diagnosis is difficult and arises with other diagnoses including other types of primitive chronic granulomatous disease or acquired immunodeficiency, severe atopic dermatitis, or cystic fibrosis or chronic respiratory infection as tuberculosis. To date, there is no gold standard management and treatments aim to relieve symptoms and avoid complications. We report on a 30-year-old female with a long-time misdiagnosed HIES.http://www.sciencedirect.com/science/article/pii/S2772829325001262Hyper-IgE syndromeJob syndromeHIESIgE
spellingShingle Lee Smith, PhD
Ahmed Rafei, MD
Susanna Caminada, MD
Salma Barakat, MD
Sami Medani Abd Elwahab, MD
Damiano Pizzol, PhD
Abdelmounem Eltayeb Abdo, PhD
Hyper-IgE syndrome: A rare case report
Journal of Allergy and Clinical Immunology: Global
Hyper-IgE syndrome
Job syndrome
HIES
IgE
title Hyper-IgE syndrome: A rare case report
title_full Hyper-IgE syndrome: A rare case report
title_fullStr Hyper-IgE syndrome: A rare case report
title_full_unstemmed Hyper-IgE syndrome: A rare case report
title_short Hyper-IgE syndrome: A rare case report
title_sort hyper ige syndrome a rare case report
topic Hyper-IgE syndrome
Job syndrome
HIES
IgE
url http://www.sciencedirect.com/science/article/pii/S2772829325001262
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