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GTR Home > Conditions/Phenotypes > Granulocytopenia with immunoglobulin abnormality

Granulocytopenia with immunoglobulin abnormality

Summary

Immunodeficiency-59 and hypoglycemia (IMD59) is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dendritic cell deficiency are present (Haapaniemi et al., 2017). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GRP-170, Grp170, HSP12A, IMD59, ORP-150, ORP150, HYOU1
    Summary: hypoxia up-regulated 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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