Background: 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.
Objective: We analysed the molecular basis of AR-HIES in a Chinese family.
Methods: 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.
Results: We identified a novel large deletion of 1481 bp in the DOCK8 gene, encompassing the totality of exon 11 (c.1126_1285del).
Conclusion: Our data expand the spectrum of mutations in the DOCK8 gene underlying AR-HIES.
© 2014 European Academy of Dermatology and Venereology.