immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

Term ID

DOID:0112061

Synonyms

• 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. (2)

References

• MIM:618986

Ontology

Human Disease   ( DOID:0112061 )