About   Help   FAQ
Disease Ontology Browser
immunodeficiency 41 (DOID:0111968)
Alliance: disease page
Synonyms: CD25 deficiency; IL2RA deficiency; IMD41; immunodeficiency 41 with lymphoproliferation and autoimmunity; immunodeficiency due to CD25 deficiency; interleukin-2 receptor alpha chain deficiency
Alt IDs: OMIM:606367, MESH:C565232, ORDO:169100
Definition: A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory