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GTR Home > Conditions/Phenotypes > Hyper-IgM syndrome type 3

Hyper-IgM syndrome type 3

Synonyms
Hyper-IgM Immunodeficiency Syndrome, Type 3; Immunodeficiency with hyper IgM type 3

Summary

Type 3 immunodeficiency with hyper-IgM (HIGM3), first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM. For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). [from OMIM]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Bp50, CDW40, TNFRSF5, p50, CD40
    Summary: CD40 molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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