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

Engelhardt, Karin; McGhee, Sean; Winkler, Sabine; Sassi, Atfa; Woellner, Cristina; Lopez-Herrera, Gabriela; Chen, Andrew; Kim, Hong; Lloret, Maria; Schulze, Ilka; Ehl, Stephan; Thiel, Jens; Pfeifer, Dietmar; Veelken, Hendrik; Niehues, Tim; Siepermann, Kathrin; Weinspach, Sebastian; Reisli, Ismail; KELEŞ, SEVGİ; Genel, Ferah; Kutuculer, Necil; Camcioglu, Yıldız; Somer, Ayper; Karakoc-Aydiner, Elif; Barlan, Isil; Gennery, Andrew; Metin, Ayse; Degerliyurt, Aydan; Pietrogrande, Maria; Yeganeh, Mehdi; Baz, Zeina; Al-Tamemi, Salem; Klein, Christoph; Puck, Jennifer; Holland, Steven; McCabe, Edward; Grimbacher, Bodo; Chatila, Talal

doi:10.1016/j.jaci.2009.10.038

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

Engelhardt K. R. , McGhee S., Winkler S., Sassi A., Woellner C., Lopez-Herrera G., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.124, no.6, pp.1289-1302, 2009 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 124 Issue: 6
Publication Date: 2009
Doi Number: 10.1016/j.jaci.2009.10.038
Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Page Numbers: pp.1289-1302

Abstract

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.