Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting

Abstract

Hyper-IgE syndrome (HIES) in adult patient is a very rare occurrence with heterogenous clinical manifestation. Most of the previously described cases were from developed countries, capable of performing comprehensive testing to pinpoint the underlying genetic defect. Such facility is often unavailable in resource-limited countries, creating a great diagnostic challenge. Nevertheless, several important clinical clues can significantly aid in hypothesis formulation, such as the presence of primary immunodeficiency, eosinophilia and history of atopy. We describe the process of diagnosing HIES on an 18-year-old Asian male through systematic symptom analysis and strategic use of simple laboratory examination.