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GTR Home > Conditions/Phenotypes > Cryptosporidiosis-chronic cholangitis-liver disease syndrome

Cryptosporidiosis-chronic cholangitis-liver disease syndrome

Synonyms
IL21R immunodeficiency; Immunodeficiency type 56
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD360, IMD56, NILR, IL21R
    Summary: interleukin 21 receptor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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