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General Information
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| Term |
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis |
ID (Ontology) |
DOID:0112064 (Human Disease) |
| 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. |
| Also Known As |
"IMD73A" ; "neutrophil immunodeficiency syndrome" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | 3 | for disease ribbon | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | 3 | model of | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | 3 |
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Relationships