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GTR Home > Conditions/Phenotypes > Immunodeficiency due to CD25 deficiency

Immunodeficiency due to CD25 deficiency

Synonyms
CD25 DEFICIENCY; IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 Receptor Alpha Chain Deficiency; Interleukin 2 receptor, alpha, deficiency of
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD25, IDDM10, IL2R, IMD41, TCGFR, p55, IL2RA
    Summary: interleukin 2 receptor subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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