Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA.
Dis Markers. 2010;29(3-4):123-30. doi: 10.3233/DMA-2010-0734.
Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. DOCK8 deficiency is characterized by severe cutaneous viral infections such as warts, and a predisposition to malignancies at a young age. Only one individual has been identified with a hyper IgE phenotype associated with Tyk2 deficiency, which is characterized by nontuberculous mycobacterial infection. The identification of these genetic etiologies is leading to advances in understanding the pathogenesis of these syndromes with the goal of improving treatment.
在过去的 4 年中，已经确定了三种高 IgE 综合征的遗传病因：STAT3、DOCK8 和 Tyk2。所有这些高 IgE 综合征的特征都是湿疹、肺鼻窦感染和血清 IgE 水平显著升高。然而，每种疾病都有其独特的临床表现。STAT3 突变导致常染色体显性遗传高 IgE 综合征（Job 综合征），其特点是结缔组织、骨骼和血管异常的多样性。DOCK8 缺乏症的特征是严重的皮肤病毒感染，如疣，并且在年轻时易患恶性肿瘤。只有一名个体被确定与 Tyk2 缺乏相关的高 IgE 表型有关，其特征是分枝杆菌感染。这些遗传病因的确定正在推动对这些综合征发病机制的理解，以期改善治疗效果。
