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.