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

• MESH:C564275
• MIM:608203
• ORDO:183707
• SNOMEDCT_US_2023_03_01:723443003
• UMLS_CUI:C1842398

Ontology

Human Disease   ( DOID:0112064 )