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immunodeficiency with hyper IgM type 5 (DOID:0060759)
Synonyms: HIGM5; hyper-IgM syndrome 5; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase
Alt IDs: OMIM:608106, ICD10CM:D80.5, ORDO:101092, ORDO:183666
Definition: A hyperimmunoglobulin syndrome 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 that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory