immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

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 dysfunct

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.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Decreased total lymphocyte count
• Chronic pulmonary obstruction
• Impaired neutrophil chemotaxis
• Decreased circulating IgG concentration
• Decreased total T cell count
• Decreased total B cell count
• Severe varicella zoster infection
• Recurrent otitis media
• Generalized lymphadenopathy

Also known as: IMD73B