Case history
The case was a 14-year-old boy referred to the allergy and immunodeficiency clinic of Shahid Beheshti hospital, Kashan, Iran. He suffered from acute asthma attacks and eczema. He was the third child of nonrelative parents. His problems began at the age of ten days when he experienced acute erythematous papules associated with excoriations and vesicles over the skin of glans following circumcision procedure. Facial dermatitis appeared and continued to involve other parts of his body at six months of age. A skin prick test was performed which was indicative of sensitivity reactions to milk, egg, and wheat. Therefore, an elimination diet including milk, egg, and wheat was recommended and started. At the age of 18 months, he had two episodes of cough, dyspnea, and wheezing, resembling asthma attacks which were followed by more exacerbations at older ages. These exacerbations were effectively controlled by inhaled corticosteroids. At the age of 12 years, the patient experienced an episode of anaphylaxis. He also suffered from recurrent sinusitis without pulmonary infections. Growth and development of patients were normal. However, primary teeth were retained which was accompanied by ectopic eruption of permanent teeth (Figure 1). Based on these findings, an underlying immunodeficiency disorder was considered. Some laboratory tests were carried out for investigating immunological situations of our case (Table. 1). The results of these tests revealed the serum level of IgE was significantly elevated (1320 IU/ml) which in association with his previous history proposed the possibility of hyper IgE syndrome (HIES). The patient was genetically studied to determine a possible defect in the STAT3 gene. The genetic analysis indicated that he had a heterozygous mutation in STAT3 with a nucleotide exchange of 1909G>A in the exon 21 of STAT3 gene, leading to an amino acid change (V637M), previously known as the cause of the autosomal dominant type of hyper IgE syndrome (HIES).
Regarding the fact that our patient did not cooperate for further evaluation and only suffered from asthma, his treatment was continued by Symbicort 160/4.5 mg/inhalation one puff twice daily. Our case is presently alive and in acceptable health condition.