Update on Hyper IgE syndrome (HIES)

Hyper ige syndrome (hies) is a rare primary immunodeficiency disease.most of hies cases are sporadic. autosomal dominant hies is caused bymutation in signal transducer and activator of transcription-3 (stat-3). anumber of mosaicism hies has been reported that is associated withintermediate phenotype. autosomal recessive hies is due to mutation indock-8 or cytokine sis 8 and tyk2 or tyrosine kinase 2. the commonmanifestations are atopic eczema, staphylococcal dermatitis, cellulitis andfolliculitis (cold dermal abscesses that are not warm, painful and withoutredness), recurrent pneumonia and pulmonary abscesses, osteopenia andrecurrent bone fracture. the diagnosis of standard hies is based on clinicalsuspicion. there is no specific treatment for hies. the treatment should bebased on the prevention of developing infections. prophylactic antibioticssuch as cotrimoxazole and ivig are administered. hematopoietic stem celltransplantation was done for all types of hies, but there is a littleinformation and experience about the long term results of this therapy.