Abstract
Hyperimmunoglobulin E syndrome (HIES), also known as Job's syndrome, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and skeletal abnormalities. Individuals with HIES share a characteristic facial appearance and many oral manifestations including retained primary dentition, a high-arched palate, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. An 18-year-old lady presented with gingival swelling, bleeding from the gums, recurrent skin infections, and recurrent respiratory infections with intermittent fever. After thorough extra oral, intra oral and radiographic examination, serological investigations were performed. Growth of candida hyphae in the biopsy specimen of gingiva and increased levels of serum IgE with typical extra oral findings established the diagnosis as Job's syndrome (hyper IgE syndrome). Treatment with anti-fungal antibiotics and phase-I therapy including scaling and root planing followed by gingivoplasty using diode laser (980 nm) was performed. HIES was previously defined on the basis of clinical manifestations and laboratory markers that were not specific to the disease. With the identification of STAT3 mutations as the cause of HIES, we can definitively characterize the disease at molecular and immunologic levels. This case emphasizes the role of the dentist in the diagnosis of rare syndromes which alters the treatment plan.