OBO ID: DOID:0112064
Term Name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   ( DOID:0112064 )
OTHER immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAC2 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis 608203
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None