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

Authors


  • Conflicts of interest

      Conflicts of interest
    • None declared.
  • Funding sources

      Funding sources
    • This work was funded by grants 30901301 from the National Natural Science Foundation of China.

Abstract

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.

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