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...

Full description

Saved in:
Bibliographic Details
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
Language:Inglês
Published: 2009
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items