Gennaio 2017 - Volume XXXVI - numero 1
Clinica Pediatrica, Università di Brescia
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Key words: IgE, Eosinophilia, Hyper IgE syndrome, Immunodeficiency
Elevated IgE levels (higher than 1500 UI) can be detected in multiple conditions observed in childhood, including atopic dermatitis, infectious diseases or primary immunodeficiencies. This article describes the case of a child who in the first year of life presented with pustulosis, failure to thrive, high IgE levels and eosinophilia. Immunological and genetic studies revealed that he was affected by hyper IgE syndrome, also known as Job syndrome. This is a genetic disorder that is inherited as autosomal dominant trait that shares many signs and symptoms with atopic dermatitis, as well as with several primary immunodeficiencies, such as IPEX, combined immunodeficiencies and Netherton syndrome.
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