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Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis |
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| Authors: | Daan J aan de Kerk Ester MM van Leeuwen Machiel H Jansen J Merlijn van den Berg Marielle Alders Clementine L Vermont René AW van Lier Steven T Pals Taco W Kuijpers |
| Affiliation: | 1. Department of Experimental Immunology, Academic Medical Center (AMC), Amsterdam, The Netherlands;2. Emma Children''s Hospital, AMC, Amsterdam, The Netherlands;3. Department of Clinical Genetics, AMC, Amsterdam, The Netherlands;4. Leiden University Medical Center, Dept of Pediatric Immunology, Leiden, The Netherlands;5. Sanquin and Landsteiner Laboratory at the AMC, Amsterdam, The Netherlands;6. Department of Pathology, AMC, Amsterdam, The Netherlands |
| Abstract: | Mutations in the DOCK8 gene define the most common form of autosomal-recessive Hyper-IgE-syndrome (AR-HIES/OMIM#243700). In a patient with extensive molluscum contagiosum lesions, a homozygous DOCK8 gene deletion was demonstrated. |
| Keywords: | Hyper-IgE DOCK8 Molluscum contagiosum HSCT Antigen-specificity Memory response |
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