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GTR Home > Conditions/Phenotypes > Immunodeficiency 96

Immunodeficiency 96

Summary

Immunodeficiency-96 (IMD96) is an autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by Maffucci et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD96, LIGI, hLig1, LIG1
    Summary: DNA ligase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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