| Metadata | |
|---|---|
| ID | DOID:0112064 |
| Name | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis |
| 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. https://pubmed.ncbi.nlm.nih.gov/32542921/, https://pubmed.ncbi.nlm.nih.gov/21167572/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:723443003 |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD73A [EXACT] neutrophil immunodeficiency syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |