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General Information
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| Term |
immunodeficiency 58 |
ID (Ontology) |
DOID:0111984 (Human Disease) |
| Definition |
A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. |
| Also Known As |
"IMD58" ; "severe combined immunodeficiency due to CARMIL2 deficiency" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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immunodeficiency 58 | 1 | for disease ribbon | immunodeficiency 58 | 1 | model of | immunodeficiency 58 | 1 |
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Relationships