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hyper-IgM syndrome type 5

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.
Uniprot Description A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
Mondo Term and Equivalent IDs
MONDO:0011971:  hyper-IgM syndrome type 5
GARD:0010581: 
Orphanet:101092: