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| GENATLAS PHENOTYPE |
| last update : 04-02-2009 |
| Symbol | HIGM3 |
| Location | 20q13 |
| Name | immunodeficiency with hyper IgM, syndrome 3 |
| Corresponding gene | CD40 |
| Main clinical features | susceptibility to bacterial and opportunistic infections |
| Genetic determination | autosomal recessive |
| Function/system disorder | defense and immunity |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| various types |
| Remark(s) | mutation in CD40 can lead to an alteration of function, including the change of antigen epitope and the binding affinity with CD40L (Qi 2009) |