Smith Lee, Rafei Ahmed, Caminada Susanna, Barakat Salma, Abd Elwahab Sami Medani, Pizzol Damiano, Abdo Abdelmounem Eltayeb
Centre for Health, Performance and Wellbeing, Anglia Ruskin University, Cambridge, United Kingdom.
National Centre of Gastrointestinal and Liver Disease, Ibn Sina Hospital, Khartoum, Sudan.
J Allergy Clin Immunol Glob. 2025 Jun 24;4(3):100525. doi: 10.1016/j.jacig.2025.100525. eCollection 2025 Aug.
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.
高免疫球蛋白E综合征（HIES）是一种罕见的散发性原发性免疫缺陷病，通常表现为特应性皮炎、复发性皮肤葡萄球菌感染、复发性肺部感染以及免疫球蛋白E水平升高。由于该综合征罕见且表现非特异性、范围广泛，诊断困难，常与其他疾病混淆，包括其他类型的原发性慢性肉芽肿病或获得性免疫缺陷病、重度特应性皮炎、囊性纤维化或慢性呼吸道感染如肺结核。迄今为止，尚无金标准治疗方案，治疗旨在缓解症状并避免并发症。我们报告一例30岁长期误诊为HIES的女性病例。
