Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation

Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life. He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth. The IgE was elevated (>5000 IU/mL). Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases. 1. Introduction Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000？IU/mL), eczema, and recurrent staphylococcal skin and lung infections [1]. It was first described as Job’s syndrome in 1966, in patients suffering from recurrent sinopulmonary infections and cold skin abscesses due to Staphylococcus aureus [1]. The term was changed to hyper IgE syndrome, when an elevated level of IgE was discovered in these affected patients. There is no predilection for a certain gender or race. In recent years, the pathophysiology has been revealed through understanding the genetic components and consequences of the underlying condition. Hyper IgE syndrome is a complex immune deficiency with diverse clinical manifestations and heterogeneous genetic origins [2]. The presentation of hyper IgE syndrome is highly variability, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. The majority of patients with hyper IgE syndrome suffer from recurrent staphylococcal infections that predominantly involve the skin and lungs. Other features include abnormalities of the musculoskeletal system, hypermobility of the joints, prominent forehead, broad nasal bridge, macrocephaly, retention of