Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Children Infectious Diseases and Clinical Immunology Departement, Children ' s Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.
Tunis Med. 2024 Oct 5;102(10):696-701. doi: 10.62438/tunismed.v102i10.5148.
Hyper-IgE syndrome is a group of inborn errors of immunity, some of which are syndromic, characterized clinically by the classic triad of chronic eczema, cutaneous and/or pulmonary staphylococcal infections and high serum IgE concentrations (> 2000 IU/ml or > 10 x normal for age).
We report here the clinical and immunological aspects of Moroccan patients presenting probable or possible HIES according to NIH-HIES score.
This retrospective study covers the period from 1998 to 2023 and includes Moroccan patients with a clinical presentation suggestive of HIES (skin and/or pulmonary infections, eczema, high IgE levels) and an NIH score ≥ 20. We attempted to classify the patients phenotypically according to the 2022 IUIS IEI Expert Committee classification.
Median age at symptom onset was 0.5 years and median age at diagnosis was 5.5 years. The main clinical signs were eczema (66%), skin abscesses (32.5%), pneumonia (32.5%), otitis (20%), mucocutaneous candidiasis (19%), diarrhea (12%), facial dysmorphism (10.3%), lymphadenopathy (9.5%), bronchial dilation (8%), pneumatoceles (8%), conjunctivitis (7.1%), rhinitis (6.3%), psychomotor delay (5.6%), pathological fractures (4%), retention of deciduous teeth (4%), cognitive delay (3.2%).
This is the first clinical description of a cohort of Moroccan patients presenting HIES according to NIH criteria. Phenotype can sometimes orient towards identification of the mutated gene, but the overlapping clinical signs make molecular analysis necessary for genetic counseling and appropriate treatment.
高免疫球蛋白 E 综合征是一组先天性免疫缺陷，其中一些为综合征，临床上表现为经典三联征：慢性湿疹、皮肤和/或肺部葡萄球菌感染以及高血清 IgE 浓度（>2000IU/ml 或>年龄 10 倍正常值）。
根据 NIH-HIES 评分，我们报告了摩洛哥患者出现疑似或可能的高免疫球蛋白 E 综合征的临床和免疫学方面。
本回顾性研究涵盖了 1998 年至 2023 年的时间段，包括具有高免疫球蛋白 E 综合征临床表现（皮肤和/或肺部感染、湿疹、高 IgE 水平）和 NIH 评分≥20 的摩洛哥患者。我们试图根据 2022 年 IUISIEI 专家委员会分类对患者进行表型分类。
症状发作的中位年龄为 0.5 岁，诊断的中位年龄为 5.5 岁。主要的临床体征包括湿疹（66%）、皮肤脓肿（32.5%）、肺炎（32.5%）、中耳炎（20%）、黏膜皮肤念珠菌病（19%）、腹泻（12%）、面部畸形（10.3%）、淋巴结病（9.5%）、支气管扩张（8%）、肺大疱（8%）、结膜炎（7.1%）、鼻炎（6.3%）、精神运动发育迟缓（5.6%）、病理性骨折（4%）、乳牙滞留（4%）、认知延迟（3.2%）。
这是根据 NIH 标准首次描述摩洛哥患者出现高免疫球蛋白 E 综合征的临床描述。表型有时可以提示鉴定突变基因，但重叠的临床体征使得有必要进行分子分析，以进行遗传咨询和适当的治疗。
