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.
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Imai K et al. (2003) Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. ![]() |
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OMIM.ORG article Omim 608106![]() |