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immunodeficiency 17
Summary
- Synonym
-
- CD3-gamma deficiency
- IMD17
- SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
- immunodeficiency 17, CD3 gamma deficient
- Definition
- A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111973
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09693 | T-cell surface glycoprotein CD3 gamma chain |
