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GENATLAS PHENOTYPE
last update : 06-09-2017
Symbol HIES2
Location 9p24.3
Name Hyper-IgE recurrent infection syndrome 2
Corresponding gene DOCK8
Main clinical features
  • hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement
  • severe recurrent fungal and viral infections with molluscum contagiosum, herpes zoster, and herpes simplex, severe atopy with anaphylaxis
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s) . DOCK8 deficiency results in defective antibody responses and undirected plasma cell expansion in the lymph nodes (PMID: 23891736))