Article
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clinical immunology (Orlando, Fla.) - 1 Feb 2016
Kienzler Anne-Kathrin, van Schouwenburg Pauline A, Taylor John, Marwah Ishita, Sharma Richa U, Noakes Charlotte, Thomson Kate, Sadler Ross, Segal Shelley, Ferry Berne, Taylor Jenny C, Blair Edward, Chapel Helen, Patel Smita Y
Abstract excerpt
Loss-of-function mutations in DOCK8 are linked to hyper-IgE syndrome. Patients typically present with recurrent sinopulmonary infections, severe cutaneous viral infections, food allergies and elevated serum IgE. Although patients may present with a spectrum of disease-related symptoms, molecular mechanisms explaining phenotypic variability in patients are poorly defined. Here we characterized a novel compound...
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