Case report. Job syndrome as an unusual finding in a pediatric patient

Abstract

Background: Job Syndrome is a primary immunodeficiency disorder with an incidence of 1 per million people. It is characterized by elevated IgE levels, eosinophilia, recurrent infections (bacterial and fungal), eczematous dermatitis, musculoskeletal and vascular anomalies. Diagnosis is based on IgE > 1000 IU/ml and eosinophilia. Treatment is multidisciplinary, including bone marrow transplantation, stem cell therapy, and human immunoglobulin.

Case report: Evolution: We present a 13-year-old male with a history of asthma and atopic dermatitis treated with subcutaneous immunotherapy since 2016. He developed furunculous lesions that progressed to the frontal area, nose, forearms, abdomen, legs, ankles, and feet. Despite treatment with hydroxyzine, mupirocin, tacrolimus, clobetasol, and deflazacort, he showed no improvement. In 2021, he was admitted to the pediatric department, where the diagnosis was confirmed based on Grimbacher criteria. Treatment with human immunoglobulin was initiated, with adequate response. Currently, the patient is in good general condition with persistence of some skin lesions.

Conclusions: The therapeutic strategy focuses on the prevention and management of infections and symptoms. It is important to identify complications in the early stages of the disease to treat them effectively. This syndrome, although rare, should be considered a serious condition; early identification of this condition is crucial to improve outcomes in patients with similar presentations.

Keywords: Immunodeficiency; Autosomal; Eosinophilia; Multidisciplinary; Furunculosis.