Rare clinical presentations of hyper-IgE syndrome in a patie
The case was a 14-year-old boy. He was the third child of unrelated parents. Erythematous papules and vesicles were observed on the glans penis after circumcision procedure. At 6 months of age, he was referred to the allergy and immunodeficiency clinic of Kashan Shahid Beheshti hospital, Iran, due to facial dermatitis (eczema). The result of skin prick test indicated hypersensitivity reactions to milk, egg, and wheat. Atopic dermatitis was diagnosed.

He was treated according to guidelines for the treatment of atopic eczema. Foods containing eggs, milk, and wheat were also eliminated from daily diets. A replacement diet was designed to provide substitutes for the eliminated foods for maintenance of balanced nutrition.10 At 18 months of age, our case suffered from cough, dyspnea, and wheezing, which their severity increased with age. Clinical evaluations revealed that our patient suffered from asthma. He was treated based on the 2019 Global Initiative for Asthma (GINA) guidelines. At 10 years of age, acute asthma attacks and eczema were accompanied by recurrent sinusitis.

These complications were, respectively, treated with inhaled corticosteroids and antibiotic therapy (amoxicillin/clavulanic acid 625 mg BD). At 12 years of age, our patient showed some clinical symptoms related to anaphylaxis, which were managed according to guidelines for anaphylaxis treatment. His growth and weight were normal. However, retention of primary teeth was accompanied by ectopic eruption of permanent teeth. Based on these findings, an immunodeficiency disorder was suspected. Some laboratory tests were used to assess his immunological situation. Laboratory blood tests revealed a significant increase in serum IgE level (1320 IU/ml).

This finding along with our previous observations suggested that our patient might suffer from hyper-IgE syndrome (HIES). The patient was genetically assessed to determine a possible defect in the STAT3 gene. The genetic analysis indicated that he had a heterozygous mutation in STAT3 leading to an amino acid change (V637M) in the SH2 domain through a nucleotide exchange of 1909 G to A in the exon 21. This genetic change is considered as a major cause of AD-HIES.

Regarding that our patient suffered from asthma and was dissatisfied with further evaluations, he was treated with budesonide/formoterol 160/4.5 mg/inhalation one puff twice daily. This patient is currently alive and in acceptable health condition.

Source: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.4692?af=R
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