Shrestha Pragya, Sabharwal Geetika, Ghaffari Gisoo
Internal Medicine Department, Reading Hospital-Tower Health System, Reading, PA, USA.
Division of Pulmonary, Allergy, and Critical Care Medicine, Penn State College of Medicine, Hershey, PA, USA.
Case Reports Immunol. 2018 Aug 13;2018:4860902. doi: 10.1155/2018/4860902. eCollection 2018.
Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.
虽然高免疫球蛋白E综合征（HIES）是一种罕见的免疫缺陷疾病，但其出现的症状可能与肺部和皮肤感染一样常见。症状通常是非特异性的，如反复出现的脓肿、毛囊炎、肺炎以及骨骼异常。详细了解皮肤和肺部感染易感性病史、全面的家族史以及体格检查结果，有助于诊断这种常被忽视的疾病。早期通过预防性抗生素优化治疗，可预防反复感染及未来并发症，提高生活质量和延长生存期。我们报告一例年轻女性高免疫球蛋白E综合征患者，其信号转导和转录激活因子3（STAT 3）基因存在新的突变，该患者最初因顽固性皮肤脓肿长期就诊，被误诊为化脓性汗腺炎。
