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GTR Home > Conditions/Phenotypes > Immunodeficiency 51

Immunodeficiency 51

Synonyms
CANDIDIASIS, FAMILIAL, 5

Summary

Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CANDF5, CD217, CDw217, IL-17RA, IL17R, IMD51, hIL-17R, IL17RA
    Summary: interleukin 17 receptor A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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