Hyperimmunoglobulin E Syndrome (HIES) Treated with Thalidomide Plus Dexamethasone with Encouraging Results

Hyperimmunoglobulin E syndrome (HIES) is a rare and complex immunodeficiency disease that is characterized by recurrent skin abscesses caused by Staphylococcus aureus, recurrent pneumonia with formation of pneumatoceles, eosinophilia and serum immunoglobulin E > 2,000 IU / mL. Recent studies about the molecular changes in HIES include mutations in the gene encoding signal transducer and activator of transcription 3 (STAT3), which cause autosomal dominant form of the disease. Clinical diagnosis is established through Grimbacher criteria, because there is significant variation in the constellation of symptoms and signs among individual patients. There is no specific treatment of HIES, although therapeutic alternatives have been studied with controversial results. Several forms of treatment have been informed with bone marrow transplantation as well without benefit results. We present two cases of HiperIgE that received off - label treatment with thalidomide and dexamethasone achieving an excellent evolution, remission of symptoms and decline of IgE levels. To our knowledge this is the first report in which the disease natural history has changed with thalidomide and dexamethasone treatment with a rapid reduction of symptoms (pruritus) and IgE levels returned to normal.