Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Author:

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,Kutuculer Necil,Camcıoğlu Yıldız,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.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference28 articles.

1. Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder;Grimbacher;N Engl J Med,1999

2. Hyper-IgE syndromes;Grimbacher;Immunol Rev,2005

3. STAT3 mutations in the hyper-IgE syndrome;Holland;N Engl J Med,2007

4. Genetic linkage of hyper-IgE syndrome to chromosome 4;Grimbacher;Am J Hum Genet,1999

5. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome;Woellner;J Allergy Clin Immunol,2009

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