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immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Summary
- Synonym
-
- IMD73B
- 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.
- Super Class
- autosomal dominant disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0112061
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
