Large Deletions and Point Mutations Involving DOCK8 in the Autosomal Recessive Form of the Hyper-IgE Syndrome

BACKGROUND: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60-70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining hyper-IgE syndrome patients, the genetic etiolo...

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Main Authors: Engelhardt, Karin R., McGhee, Sean, Winkler, Sabine, Sassi, Atfa, Woellner, Cristina, Lopez-Herrera, Gabriela, Chen, Andrew, Kim, Hong Sook, Lloret, Maria Garcia, Schulze, Ilka, Ehl, Stephan, Thiel, Jens, Pfeifer, Dietmar, Veelken, Hendrik, Niehues, Tim, Siepermann, Kathrin, Weinspach, Sebastian, Reisli, Ismail, Keles, Sevgi, Genel, Ferah, Kütükçüler, Necil, Camcioğlu, Yildiz, Somer, Ayper, Aydiner, Elif Karakoc, Barlan, Isil, Gennery, Andrew, Metin, Ayse, Degerliyurt, Aydan, Pietrogrande, Maria C., Yeganeh, Mehdi, Baz, Zeina, Al-Tamemi, Salem, Klein, Christoph, Puck, Jennifer M., Holland, Steven M., McCabe, Edward R. B., Grimbacher, Bodo, Chatila, Talal
Format: Artigo
Jezik:Inglês
Izdano: 2009
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2818862/
https://ncbi.nlm.nih.gov/pubmed/20004785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2009.10.038
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