Beate Hagl, Valerie Heinz, Anne Schlesinger, Benedikt D Spielberger, Julie Sawalle-Belohradsky, Monika Senn-Rauh, Thomas Magg, Annette C Boos, Manfred Hönig, Klaus Schwarz, Gregor Dückers, Horst von Bernuth, Christoph Pache, Cäcilia Karitnig-Weiss, Bernd H Belohradsky, Josef Frank, Tim Niehues, Volker Wahn, Michael H Albert, Andreas Wollenberg, Annette F Jansson, Ellen D Renner
BACKGROUND: Hyper-IgE syndromes (HIES) are primary immunodeficiency disorders characterized by elevated serum IgE, eczema, and recurrent infections. Despite the availability of confirmatory molecular diagnosis of several distinct HIES entities, the differentiation of HIES particularly from severe forms of atopic dermatitis remains a challenge. The two most common forms of HIES are caused by mutations in the genes STAT3 and DOCK8. METHODS: Here, we assess the clinical and immunologic phenotype of DOCK8- and STAT3-HIES patients including the cell activation, proliferation, and cytokine release after stimulation...
March 2016: Pediatric Allergy and Immunology