A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome

BackgroundAutosomal-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. ObjectiveWe analysed the molecular basis of AR-HIES in a Chinese family. MethodsA 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. ResultsWe identified a novel large deletion of 1481bp in the DOCK8 gene, encompassing the totality of exon 11 (c.1126_1285del). ConclusionOur data expand the spectrum of mutations in the DOCK8 gene underlying AR-HIES.