Search Ontology:
Human Disease
immunodeficiency 41
- Term ID
- DOID:0111968
- Synonyms
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- CD25 deficiency
- IL2RA deficiency
- IMD41
- immunodeficiency 41 with lymphoproliferation and autoimmunity
- immunodeficiency due to CD25 deficiency
- interleukin-2 receptor alpha chain deficiency
- 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. (2)
- References
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- MESH:C565232
- MIM:606367
- ORDO:169100
- Ontology
- Human Disease ( DOID:0111968 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models