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Human Disease

immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis

Term ID
DOID:0112064
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 )
Relationships
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Genes Involved
Zebrafish Models