immunodeficiency with hyper-IgM type 5

immunodeficiency with hyper-IgM type 5

A rare immunodeficiency (OMIM:608106) characterised by normal or elevated serum IgM levels with absence of IgG, IgA and IgE, resulting in a marked increase in susceptibility to bacterial infections.
Molecular pathology
Caused by defects of UNG, which encodes a uracil-DNA glycosylase that prevents mutagenesis by eliminating uracil from DNA sequences.