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Metadata
ID DOID:0112061
Name immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
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 RAC2 on chromosome 22q13.1.
https://pubmed.ncbi.nlm.nih.gov/30723080/, https://pubmed.ncbi.nlm.nih.gov/32542921/
Xrefs

OMIM:618986

Synonyms

IMD73B [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a autosomal dominant disease

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