Article
Cutaneous manifestations of DOCK8 deficiency syndrome.
Archives of dermatology - 1 Jan 2012
Chu Emily Y, Freeman Alexandra F, Jing Huie, Cowen Edward W, Davis Joie, Su Helen C, Holland Steven M, Turner Maria L Chanco
Abstract excerpt
BACKGROUND: Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job's syndrome. Distinguishing between DOCK8 deficiency...
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