Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Engelhardt K. R., MCGHEE S., Winkler S., SASSI A., Woellner C., Lopez-Herrera G., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.124, no.6, pp.1289-1302, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 124 Issue: 6
  • Publication Date: 2009
  • Doi Number: 10.1016/j.jaci.2009.10.038
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1289-1302
  • Keywords: Autosomal recessive hyper-IgE syndrome, human gene mutation, DOCK8, primary immunodeficiency, molluscum contagiosum, recurrent infection, T cells, T(H)17 cells, eosinophils, IgE regulation, copy number variations, genomic deletions, IDENTIFICATION, REARRANGEMENTS, GENOME
  • Istanbul University Affiliated: Yes

Abstract

Background: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified.