immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis

A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of f

A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.

Signs and symptoms

• Decreased neutrophil oxidative burst
• Poor wound healing
• Rectal abscess
• Reduction of neutrophil motility
• Urachal cyst
• Delayed umbilical cord separation
• Neonatal omphalitis
• Abnormally low T cell receptor excision circle level
• Increased total neutrophil count
• Impaired neutrophil chemotaxis

Also known as: IMD73A; neutrophil immunodeficiency syndrome