Heropolitańska-Pliszka Edyta, Pietrucha Barbara, Mikołuć Bozena, Bernatowska Ewa
Oddział Immunologii, Klinika Gastrologii, Hepatologii i Immunologii, Instytut ''Pomnik-Centrum Zdrowia Dziecka'', Al. Dzieci Polskich 20, 04-730 Warszawa.
Med Wieku Rozwoj. 2009 Jan-Mar;13(1):19-25.
Hyper-IgE syndrome (HIES) is a primary immunodeficiency (PID) characterized by recurrent skin abscesses (S. aureus), recurrent pneumonia with pneumatocele formation, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). HIES is a sporadic disease, however, two distinct entities - classic HIES inherited in an autosomal dominant pattern (AD HIES), and an autosomal recessive HIES (AR HIES) have been described. Some cases of AD HIES with predominant pulmonary manifestation are caused by mutation in STAT3 gene. It is important to differentiate cases of atopic dermatitis and AD HIES where it is necessary to implement antibacterial and antifungal prophylaxis. Opportunity of performing genetic analysis in suspicion of AD HIES leads to definitive diagnosis of the disease and earlier institution of appropriate treatment. We present the case of a 22-year-old patient with typical course of autosomal dominant hyper-IgE syndrome, confirmed in the Royal Free Hospital, University College London, UK, by finding mutation in STAT3 gene.
高免疫球蛋白E综合征（HIES）是一种原发性免疫缺陷病（PID），其特征为反复出现皮肤脓肿（金黄色葡萄球菌感染）、伴有肺气囊形成的反复肺炎、特应性皮炎以及血清IgE水平升高（>2000 IU/ml）。HIES是一种散发性疾病，不过，已经描述了两种不同的类型——以常染色体显性模式遗传的经典HIES（AD HIES）和常染色体隐性HIES（AR HIES）。一些以肺部表现为主的AD HIES病例是由STAT3基因突变引起的。区分特应性皮炎和AD HIES病例很重要，因为有必要进行抗菌和抗真菌预防。怀疑为AD HIES时进行基因分析的可能性可导致对该病的明确诊断并更早地开始适当治疗。我们报告了一例22岁的患者，其患有典型的常染色体显性高免疫球蛋白E综合征病程，在英国伦敦大学学院皇家自由医院通过发现STAT3基因突变得以确诊。
