Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

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 mec...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758821/
https://www.ncbi.nlm.nih.gov/pubmed/26680607
http://dx.doi.org/10.1016/j.clim.2015.12.003

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