Article
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
The Journal of allergy and clinical immunology - 1 Dec 2009
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, Kutukculer Necil, Kutuculer Necil, Camcioğlu Yildiz, Somer Ayper, Karakoc-Aydiner Elif, 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 A
Abstract excerpt
BACKGROUND: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 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 patients with hyper-IgE syndrome, the genetic etiology has not yet been identified. OBJECTIVES: We aimed to identify a gene that is mutated or deleted in...
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