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| GENATLAS PHENOTYPE |
| last update : 22-07-2009 |
| Symbol | HIGM4 |
| Location | 12q23q24.1 |
| Name | immunodeficiency with hyper IgM |
| Corresponding gene | UNG |
| Other symbol(s) | HIGM5 |
| Main clinical features | recurrent upper and lower respiratory tract and gastrointestinal infections |
| Genetic determination | autosomal recessive |
| Function/system disorder | defense and immunity |
| Type | disease |
| Remark(s) | recessive mutations associated with profound impairment in immunoglobulin (Ig) class-switch recombination (CSR) at a DNA precleavage step and with a partial disturbance of the somatic hypermutation (SHM) generation in three patients with hyper-IgM syndrome |