Hyper-IgM syndrome 5 is an aautosomal recessiv disorder caused by mutations of the UNG gene. The disorder is characterized clinically by elevated immunoglobulin IgM levels that are meant to compensate a deficiency in IgG, IgA, and IgM.
Hyper-IgM syndrome | ||||
Hyper-IgM syndrome 1 | ||||
Hyper-IgM syndrome 2 | ||||
Hyper-IgM syndrome 3 | ||||
Hyper-IgM syndrome 4 | ||||
Hyper-IgM syndrome 5 | ||||
UNG | ||||
1. |
Imai K et al. (2003) Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. |
2. |
OMIM.ORG article Omim 608106 |