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MIRAGE
immunodeficiency 19
Summary
- Synonym
-
- CD3-delta deficiency
- IMD19
- SCID T cell-negative, B cell-positive, NK cell-positive
- severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
- Definition
- A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111972
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04234 | T-cell surface glycoprotein CD3 delta chain |
