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


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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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 124 Issue: 6
  • Publication Date: 2009
  • Doi Number: 10.1016/j.jaci.2009.10.038
  • Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Page Numbers: pp.1289-1302

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.