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GTR Home > Conditions/Phenotypes > Immunodeficiency 18

Immunodeficiency 18

Synonyms
CD3-EPSILON DEFICIENCY; CD3epsilon deficiency

Summary

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). [from OMIM]

Available tests

23 tests are in the database for this condition.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD3epsilon, IMD18, T3E, TCRE, CD3E
    Summary: CD3 epsilon subunit of T-cell receptor complex

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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