GTR Home > Conditions/Phenotypes > Immunodeficiency with hyper IgM type 3

Summary

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

12 tests are in the database for this condition.

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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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