Hyper-Ig E syndrome, A clinical case

Abstract

Introduction. Hyper-IgE syndrome or Job's syndrome is a primary immunodeficiency condition characterized by a clinical triad: recurrent staphylococcal skin infection, recurrent pneumonias with pneumocoele formation, eczematous dermatitis, and high levels (more than 1000 IU/ml) of IgE in serum. Also, 90% of patients have eosinophilia. There are two types of hyper-IgE syndrome: Type I (autosomal dominant, with multiple organ damage, including the immune system, connective tissue, musculoskeletal, vascular systems) and type II (autosomal recessive variant of hyper-IgE syndrome with recurrent infections of the respiratory tract and lungs, severe skin viral infections (molluscum contagiosum), autoimmune diseases, oncopathology). Job's syndrome is associated with a mutation of the STAT3 gene, which is involved in signal transduction of cytokine families. For diagnosis, the level of IgE in the blood serum is examined. The basis of treatment of patients with hyper-IgE syndrome is antimicrobial therapy, topical treatment of eczematous dermatitis, surgical treatment (thoracic, orthopedic interventions, drainage of abscesses), immunobiological therapy with omalizumab. Some patients require a bone marrow transplant. Materials and methods: clinical, laboratory, instrumental. Results and discussion. We present a clinical case of a 55-year-old patient who was consulted by a dermatologist, rheumatologist, hematologist, and immunologist, and laboratory and instrumental studies were performed, which allowed us to establish a diagnosis of Job's syndrome and prescribe treatment. Conclusions: hyper-IgE syndrome is often found situationally. Patients should be examined by related specialists, taking into account possible complications. It is desirable to create a national PID database for timely assistance and the possibility of state compensation for high-cost treatment.

Key words: hyper-IgE (Job's syndrome), primary immunodeficiency, triad, complications, treatment.