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MIRAGE
severe combined immunodeficiency 104
Summary
- Synonym
-
- autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
- interleukin-7 receptor alpha deficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
- Definition
- A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0090014
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O89053 | Coronin-1A |
