Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses

The study discusses a 15-year-old male with a heterozygous variant in IL6ST, presenting with persistent skin abscesses and elevated serum IgE levels, but lacking other common symptoms of hyper-IgE syndrome (HIES). This variant, located in the extracellular domain of IL6ST, is not found in population databases and represents a potential expansion of the known phenotype of autosomal dominant HIES. The patient's unique presentation, including hair loss secondary to lesions and minimal improvement with antibiotics, highlights the need for further research on IL6ST variants and their associated clinical manifestations.