immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis (DOID:0112064)
Alliance: disease page
Synonyms: IMD73A; neutrophil immunodeficiency syndrome
Alt IDs: OMIM:608203, MESH:C564275, ORDO:183707, UMLS_CUI:C1842398
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.