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GTR Home > Conditions/Phenotypes > Hyper-IgM syndrome type 5

Hyper-IgM syndrome type 5

Synonyms
Hyper-IgM Immunodeficiency Syndrome, Type 5; Immunodeficiency with hyper IgM type 5

Summary

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 immunodeficiency with hyper-IgM, see HIGM1 (308230). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DGU, HIGM4, HIGM5, UDG, UNG1, UNG15, UNG2, UNG
    Summary: uracil DNA glycosylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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