A novel large deletion of the DOCK8 gene in a Chinese family with autosomal‐recessive hyper‐IgE syndrome. (17th February 2014)

• Record Type: Journal Article
• Authors: Xue, L.; Yang, Y.; Wang, S.
• Is Part Of: Journal of the European Academy of Dermatology and Venereology. Volume 29:Number 3(2015:Mar.)
• Page Start: 599
• Page End: 601
• Publication Date: 2014-02-17
• Subjects: Dermatology -- Periodicals; Sexually transmitted diseases -- Periodicals; 616.5
• DOI: 10.1111/jdv.12394
• Languages: English
• ISSNs: 0926-9959

Abstract

<abstract abstract-type="main" id="jdv12394-abs-0001"> <title>Abstract</title> <sec id="jdv12394-sec-0001" sec-type="section"> <title>Background</title> <p>Autosomal‐recessive hyper‐IgE syndrome (AR‐HIES; OMIM 243700) is a rare primary immunodeficiency disorder mainly caused by mutations in the dedicator of cytokinesis‐8 (DOCK8) gene. DOCK8 is highly expressed in the immune system and plays important roles in regulation of lymphocyte functions.</p> </sec> <sec id="jdv12394-sec-0002" sec-type="section"> <title>Objective</title> <p>We analysed the molecular basis of AR‐HIES in a Chinese family.</p> </sec> <sec id="jdv12394-sec-0003" sec-type="section"> <title>Methods</title> <p>A Chinese pedigree of typical AR‐HIES was subjected to mutation detection in the DOCK8 gene. All exons of the DOCK8 gene and adjacent exon–intron border sequences were amplified using polymerase chain reaction and directly sequenced.</p> </sec> <sec id="jdv12394-sec-0004" sec-type="section"> <title>Results</title> <p>We identified a novel large deletion of 1481 bp in the DOCK8 gene, encompassing the totality of exon 11 (c.1126_1285del).</p> </sec> <sec id="jdv12394-sec-0005" sec-type="section"> <title>Conclusion</title> <p>Our data expand the spectrum of mutations in the DOCK8 gene underlying AR‐HIES.</p> </sec> </abstract>