Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Disease ID: disease_node_13334
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618986 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050736 |
| Data Source | DOID |
| Synonyms | IMD73B |
| Doid Label | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
| Doid Description | A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13334 |
| Doid Id | DOID_0112061 |
| Label | Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
- Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)