Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3201075 | Journal of Allergy and Clinical Immunology | 2009 | 18 Pages |
Abstract
Autosomal-recessive mutations in DOCK8 are responsible for many, although not all, cases of autosomal-recessive hyper-IgE syndrome. DOCK8 disruption is associated with a phenotype of severe cellular immunodeficiency characterized by susceptibility to viral infections, atopic eczema, defective T-cell activation and Th17 cell differentiation, and impaired eosinophil homeostasis and dysregulation of IgE.
Keywords
CNVIgE regulationDOCKMolluscum contagiosumHIESDOCK8GEFCFSEDHRSTAT3NIHWASPnatural killerEosinophilscopy number variationGenomic deletionsTh17 cellsT cellshyper-IgE syndromeRecurrent infectionguanine nucleotide exchange factorNIH, National Institutes of Healthsignal transducer and activator of transcription 3Wiskott-Aldrich syndrome proteincarboxyfluorescein succinimidyl esterprimary immunodeficiencyCopy number variations
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Authors
Karin R. Dr, Sean MD, Sabine MSc, Atfa PhD, Cristina MSc, Gabriela PhD, Andrew Chen, Hong Sook PhD, Maria Garcia MD, Ilka MD, Stephan MD, Jens MD, Dietmar Dr, Hendrik MD, Tim MD, Kathrin MD, Sebastian MD, Ismail MD, Talal A. MD, MSc,