CASE HISTORY – October 2014

The first case of genetically confirmed hyper-IgE syndrome in Estonia

Authors: Kärt Simre, Tiia Voor, Silvi Plado, Krista Ress, Kai Kisand

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Hyper-IgE syndrome (HIES) is a rare primary immunodef iciency syndrome characterized by a triad of symptoms: skin rash, severe recurrent pneumonia and elevated total IgE level in serum. The HIES was diagnosed in a girl with serious airway infections, candidiasis and an elevated total IgE serum level in spite of the absence of typical skin rash. This is the first case of genetically confirmed HIES in Estonia.