| 单词 |
immunodeficiency with hyper-igm type 5 |
| 释义 |
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. |
| 随便看 |
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