Sorted By Test Name - Mayo Medical Laboratories

NOXB
82560
NAD
81409
HPLC tests have not been cleared or approved by the U.S. FDA.
Test Performed By: Medical Neurogenetics Lab
5424 Glenridge Drive NE
Atlanta, GA 30342
Neutrophil Oxidative Burst, Blood
Clinical Information: Chronic granulomatous disease (CGD) is a diverse group of hereditary
(X-linked and autosomal recessive) immunodeficiencies with impaired neutrophil function. The X-linked
form of CGD is caused by mutations in the CYBB gene encoding the gp91phox protein. The other 3
forms of CGD are autosomal recessive and due to mutations in the p22phox, p47phox and
p67phox-encoding genes. The majority (70%) of CGD is X-linked, and patients are diagnosed in
childhood and early adulthood. However, female carriers can become phenotypically symptomatic,
particularly when they get older. Patients with CGD frequently present with recurrent bacterial infections,
particularly of the skin, subcutaneous areas, or regional lymph nodes. Sinopulmonary infections also are
common. The majority of infections in CGD are due to Staphylococcus aureus, Pseudomonas cepacia,
Serratia marcescens, nocardia, and aspergillus. Normal neutrophil function is dependent on a number of
properties including migration toward the site of infection, phagocytosis, and microbicidal activity. While
most patients with recurrent infections have normal neutrophils, a persistent infection that fails to respond
to appropriate medical treatment or infection with an organism that is unusual in an otherwise normal host
suggest a possible neutrophil function defect. Measuring the neutrophil oxidative burst indirectly assesses
microbicidal activity.
Useful For: Diagnosis of X-linked chronic granulomatous disease (CGD) in male patients