Disseminated histoplasmosis in a patient with Hyper IgE syndrome

Abstract

Patients with both primary and acquired cellular, humoral or combined immunodeficiency are more susceptible to invasive fungal infections. These can be the form of presentation of immunodeficiency, or it can appear in patients with a previous diagnosis of said pathology. A high index of suspicion, early and adequate diagnosis and treatment are important in these cases, since their delay generates significant morbidity and mortality.

Among the primary immunodeficiencies, chronic granulomatous disease and hyper IgE syndrome have a special predisposition to invasive fungal infections.
Hyper IgE syndrome is a primary monogenic immunodeficiency, characterized by mutations in STAT3, DOCK8 or PGM3, which usually present with high levels of IgE, eczema and opportunistic infections. Although each variant has a predisposition for certain manifestations, recurrent pulmonary infections are common in all of them.

We report a case of a patient with hyper IgE variant STAT3 syndrome, presenting with disseminated histoplasmosis, with
pulmonary, oropharyngeal and cutaneous involvement.