Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyper-IgM syndrome 5

Hyper-IgM syndrome 5 is an aautosomal recessiv disorder caused by mutations of the UNG gene. The disorder is characterized clinically by elevated immunoglobulin IgM levels that are meant to compensate a deficiency in IgG, IgA, and IgM.

Systematic

Hyper-IgM syndrome
Hyper-IgM syndrome 1
Hyper-IgM syndrome 2
Hyper-IgM syndrome 3
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5
UNG

References:

1.

Imai K et al. (2003) Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

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2.

OMIM.ORG article

Omim 608106 [^]
Update: April 29, 2019