高免疫球蛋白E综合征
The hyper-IgE syndromes.
作者信息
Freeman Alexandra F, Holland Steven M
机构信息
Laboratory of Clinical Infectious Disease, National Institute of Allergy and Infectious Disease, Building 10, CRC B3-4141, MSC 1684, 9000 Rockville Pike, Bethesda, MD 20892-1684, USA.
出版信息
Immunol Allergy Clin North Am. 2008 May;28(2):277-91, viii. doi: 10.1016/j.iac.2008.01.005.
The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent bacterial infections of the skin and lung. Autosomal dominant HIES, the most common disease in this group, results from STAT3 mutations and has a variety of connective tissue and skeletal abnormalities. The genetic etiologies of the more rare autosomal recessive forms still need delineation. Treatment of these syndromes has relied on prophylactic and therapeutic antimicrobial agents and aggressive skin care. The new and evolving genetic and immunologic understandings of this previously elusive set of diseases should lead to more effective disease-specific therapies.
高免疫球蛋白E综合征（HIES）是罕见的原发性免疫缺陷病，其特征为血清IgE升高、皮疹以及皮肤和肺部反复发生细菌感染。常染色体显性遗传的HIES是该组中最常见的疾病，由信号转导和转录激活因子3（STAT3）突变引起，并有多种结缔组织和骨骼异常。更为罕见的常染色体隐性遗传形式的遗传病因仍需明确。这些综合征的治疗依赖于预防性和治疗性抗菌药物以及积极的皮肤护理。对这组以前难以捉摸的疾病在遗传和免疫学方面新的、不断发展的认识应能带来更有效的针对特定疾病的疗法。
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