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IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
(OMIM ID: #608106 )

Known also as: HIGM5, Hyper-IgM syndrome


IMMUNODEFICIENCY WITH HYPER-IgM, type 5 is caused by mutation in the gene encoding uracil-DNA glycosylase - UNG.
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of hyper-IgM syndrome, see HIGM1


DNA repair proteins related with IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (#608106 ) disease:
Following keywords are related to IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5:

Last modification of this entry: Oct. 11, 2010.

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