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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 |
|
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)) |