OBO ID: DOID:0112061 |
Term Name: | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112061 ) |
OTHER immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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