Adhikari Pratik, Regmi Rabin, Yadav Pramodman Singh, Kafle Sujan
B.P. Koirala Institute of Health Sciences, Dharan.
Patan Academy of Health Sciences, Lalitpur, Nepal.
Ann Med Surg (Lond). 2024 Jul 25;86(9):5582-5585. doi: 10.1097/MS9.0000000000002407. eCollection 2024 Sep.
Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare immunodeficiency disorder characterized by elevated immunoglobulin E levels and recurrent infections. Diagnosing and managing HIES in resource-limited settings is challenging due to the lack of advanced diagnostic tools. This report highlights the necessity of clinical evaluation and basic laboratory investigations for diagnosing HIES.
A 3-year-old male presented with fever, cough, and widespread pustular lesions. He had a history of recurrent respiratory infections and otitis media. Physical examination revealed characteristic facial features, skin findings, and laboratory investigations showed elevated immunoglobulin E levels (>3000 IU/ml) and leukocytosis. A clinical diagnosis of HIES was made, and the patient responded well to antibiotics, antihistamines, and topical steroids.
HIES is caused by genetic mutations affecting immune function, primarily involving STAT3 and DOCK8 genes. Diagnosis in resource-limited settings relies on clinical features and basic investigations. Challenges include the unavailability of genetic testing. Management includes antibiotics and symptomatic relief adapted to available resources.
Diagnosing and managing HIES in resource-limited settings requires adaptation of clinical approaches to available resources. This case underscores the importance of clinical vigilance and basic diagnostic tools in diagnosing rare immunodeficiencies.
高免疫球蛋白E综合征（HIES），又称乔布综合征，是一种罕见的免疫缺陷疾病，其特征为免疫球蛋白E水平升高和反复感染。由于缺乏先进的诊断工具，在资源有限的环境中诊断和管理HIES具有挑战性。本报告强调了临床评估和基本实验室检查对诊断HIES的必要性。
一名3岁男性患儿出现发热、咳嗽和广泛的脓疱性皮损。他有反复呼吸道感染和中耳炎病史。体格检查发现特征性面部特征、皮肤表现，实验室检查显示免疫球蛋白E水平升高（>3000 IU/ml）和白细胞增多。临床诊断为HIES，患者对抗生素、抗组胺药和外用类固醇反应良好。
HIES由影响免疫功能的基因突变引起，主要涉及STAT3和DOCK8基因。在资源有限的环境中，诊断依赖于临床特征和基本检查。挑战包括无法进行基因检测。管理措施包括使用抗生素和根据现有资源进行对症治疗。
在资源有限的环境中诊断和管理HIES需要根据现有资源调整临床方法。本病例强调了临床警惕性和基本诊断工具在诊断罕见免疫缺陷中的重要性。
