Hiệu quả điều trị omalizumab trên một trường hợp mắc hội chứng suy giảm miễn dịch tăng IgE

Abstract

Hyper IgE syndrome (HIES - Job’s syndrome) is a rare immunological disorder characterized by very high serum IgE level, atopic dermatitis, asthma, reccurence dermatitis and lung infection. HIES consists of two subtype, each with different clinical presentation and outcome. Autosomal dominance HIES is more prevalence which often caused by mutation in STAT3; and autosomal reccesive HIES (DOCK8, ZNF34, IL6R, IL6ST, IL4R… and other less common disease causing genetic variants). Recognition and diagnosis of HIES is often difficult due to non-specific clinical symptoms and thus require genetic testing to confirm the diagnosis. This report highlight a case of autosomal reccesive Hyper IgE syndrome with thorough clinical and genetics diagnostic workup, together with efficacy of omalizumab therapy on this patient.