Term Name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
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.
Ontology: Human Disease [DOID:0112064]   ( DOID:0112064 )

Relationships
is a type of: autosomal dominant disease combined immunodeficiency