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MIRAGE
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
Summary
- Synonym
-
- IMD73A
- neutrophil immunodeficiency syndrome
- Definition
- A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.
- Super Class
- autosomal dominant disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0112064
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15153 | Ras-related C3 botulinum toxin substrate 2 |
