title: A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.
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).
  
  
  CONCLUSIONS
  Our data expand the spectrum of mutations in the DOCK8 gene underlying AR-HIES.
authors.affiliation: Department of Dermatology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: L
authors.initials: L
authors.lastname: Xue
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: S
authors.initials: S
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D002681:China; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007589:Job Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors