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DOCK8 deficiency.

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.
AuthorsHelen C Su, Huie Jing, Qian Zhang
JournalAnnals of the New York Academy of Sciences (Ann N Y Acad Sci) Vol. 1246 Pg. 26-33 (Dec 2011) ISSN: 1749-6632 [Electronic] United States
PMID22236427 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Review)
Copyright© 2011 New York Academy of Sciences.
Chemical References
  • DOCK8 protein, human
  • Dock8 protein, mouse
  • Guanine Nucleotide Exchange Factors
  • Immunoglobulin E
Topics
  • Animals
  • B-Lymphocytes (immunology)
  • Central Nervous System Diseases (genetics, immunology)
  • Disease Models, Animal
  • Guanine Nucleotide Exchange Factors (genetics, metabolism)
  • Humans
  • Immunoglobulin E (immunology, metabolism)
  • Immunologic Deficiency Syndromes (genetics, immunology)
  • Job Syndrome (genetics, immunology)
  • Mice
  • T-Lymphocytes (immunology)

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