DOCK8 deficiency

Helen C. Su, Huie Jing, Qian Zhang

Research output: Contribution to journalReview article

55 Citations (Scopus)

Abstract

The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this disease. In this review, we relate the clinical features of this disease to studies using patients' cells and a mouse model of Dock8 deficiency, which have revealed how DOCK8 regulates T and B cell numbers and functions. The results of these studies help to explain how the absence of DOCK8 contributes to patients' susceptibility to viral, fungal, and bacterial infections. However, unanswered questions remain regarding how the absence of DOCK8 also leads to high IgE and allergic disease, predisposition for malignancy, and unusual clinical features, such as CNS abnormalities and autoimmunity, observed in some patients.

Original languageEnglish
Pages (from-to)26-33
Number of pages8
JournalAnnals of the New York Academy of Sciences
Volume1246
Issue number1
DOIs
Publication statusPublished - Dec 2011

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Keywords

  • Combined immunodeficiency
  • DOCK8
  • Hyper-IgE syndrome
  • Lymphopenia

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

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