Hyper IgE syndrome in the neonatal period: an unusual presentation

[摘要] Hyper-immunoglobulin E syndrome (HIES) is a rareprimary immunodeficiency disorder first described byDavis et al. [1] in 1966 that affects multiple systems ofthe body like pulmonary, cutaneous, musculoskeletal,vascular and immunological systems. The incidence ofHIES is one in a population of one million [2]. It isinherited as an autosomal dominant and as anautosomal recessive pattern [3]. The classical triad ofdisease includes elevated serum IgE (>2000 IU/ml),recurrent cutaneous abscess and recurrentsinopulmonary infection. However, in 20% of cases,the serum IgE level may be within normal limits anddoes not correlate with disease severity [4].

[学科分类] 皮肤病学