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DO Term : immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis [DOID:0112064] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • IMD73A,
  • 608203,
  • ORDO:183707,
  • neutrophil immunodeficiency syndrome,
  • OMIM:608203,
  • UMLS_CUI:C1842398,
  • SNOMEDCT_US_2023_03_01:723443003,
  • MESH:C564275
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