Alergia czy zespół hyper-IgE – trudności diagnostyczne (opis przypadku)

Abstract

The hyper-IgE syndrome is primary immunodeficiency the main symptoms of which are: high IgE level, eosynophilia, severe eczema and infections susceptibility. Clinical manifestation and course of HIES are different and depend on the type of inheritance. In AD-HIES associated with STAT3 gene mutations, bacterial infections are predominant. There also occur abnormalities of skeletal system, characteristic facial phenotype, susceptibility to pneumonias and complications such as cystic lesions. In AR-HIES, related mainly to mutations in DOCK8 gene, more frequent viral infections, severe asthma and food anaphylaxis are observed. It is difficult to differentiate this syndrome from allergic diseases with severe course such as atopic eczema and food allergy. We describe a case of a 2.5-year-old patient who presents IgE level of 29,000 IU/ml, eosynophilia, severe course of eczema, food anaphylaxis and past generalized HSV infection. The patient is suspected of mutation in DOCK8 gene.