Term Name: | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis |
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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 ) |