OBO ID: DOID:0111968 |
Term Name: | immunodeficiency 41 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111968 ) |
OTHER immunodeficiency 41 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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