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General Information
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| Term |
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
ID (Ontology) |
DOID:0112061 (Human Disease) |
| Definition |
A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. |
| Also Known As |
"IMD73B" |
| 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 73b with defective neutrophil chemotaxis and lymphopenia | 3 | for disease ribbon | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 3 | model of | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 3 |
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Relationships