Article
The hyper-IgE syndrome is not caused by a microdeletion syndrome.
Immunogenetics - 1 Dec 2007
Pfeifer Dietmar, Woellner Cristina, Petersen Astrid, Pietrogrande Maria Cristina, Franco Josè Luis, Yeganeh Mehdi, Ehl Stephan, Matamoros Nuria, Sprecher Eli, Puck Jennifer M, Veelken Hendrik, Grimbacher Bodo
Abstract excerpt
The hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent infections, elevated serum IgE-levels, and involvement of the soft- and bony tissues. We speculated that this complex disease may be caused by a microdeletion syndrome. We therefore analyzed 30 sporadic HIES patients for the presence of chromosomal imbalances using Affymetrix 50k XbaI and 23 of the 30 patients...
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