the first cohort of iranian patients with hyper immunoglobulin e syndrome a longterm followup and genetic analysis background hyperige syndromes hies are distinct diseases characterized by recurrent cutaneous and lung infections eczema and elevated serum ige levelmethods in this study clinical manifestations immunologic findings and genetic studies of all patients with hies in the iranian national registry database were evaluatedresults a total of 129 hies patients with a median age of 140 90240 years were followed up for a total of 3078 patientyears genetic studies showed heterozygous stat3 mutations in 19 patients and homozygous dock8 mutation in 16 patients the mean of national institutes of health score in stat3deficient patients was higher than in patients with dock8 mutation p 0001 it was shown that the presence of pneumatocele and hematologic complication were significantly frequent in stat3deficient cases compared to patients with dock8 deficiency p 0001 and p 0002 respectively moreover the median ige serum levels were higher in patients with stat3 gene mutation than in patients with dock8 gene mutation p 002 the eosinophils count was enhanced in patients with dock8 deficiency than in patients with stat3 gene defects p 002conclusion specific molecular study of stat3 and dock8 mutations in patients with hies clinical phenotype could help the physician to definitively characterize the disease since hies showed the highest rate of unsolved combined immunodeficiency investigation of other genetic and environmental factors could also help in understanding the mechanism of remaining patients as well as providing strategy into therapeutic modalities