OBO ID: DOID:0112061
Term Name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Search Ontology:
Synonyms:
  • IMD73B
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0112061 )
Relationships
is a type of:
OTHER immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAC2 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia 618986
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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