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immunodeficiency 41
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111968
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
