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Historically, the nitroblue tetrazolium (NBT) test has been the recognized diagnostic test for chronic granulomatous disease (CGD). Relying on light microscopy, NBT provides only a qualitative determination of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The NBT test is also open to operator subjectivity and can produce false-negative results.1-3
The dihydrorhodamine (DHR) test* is the preferred method for diagnosing CGD. Resulting in fewer false-negative test results than the NBT test, the DHR test is known for its1-4:
Speak with a clinical science associate (CSA) about testing for CGD with the DHR test.
*The DHR test is also referred to as the neutrophil oxidative burst (NOXB1) assay for assessing neutrophil superoxide production.5
Abbreviations: ANC, absolute neutrophil count; FITC, fluorescein isothiocyanate; MFI, mean fluorescence intensity; PMA, phorbol myristate acetate.
Results:
Result is consistent with associated X-linked CGD in a male patient.
Abbreviations: ANC, absolute neutrophil count; FITC, fluorescein isothiocyanate; MFI, mean fluorescence intensity; PMA, phorbol myristate acetate.
aPMA is an activator used to stimulate neutrophil NADPH oxidase activity. bUsually a female with a healthy and a mutated allele for gp91phox. Adapted from Jirapongsananuruk et al6 Leiding et al (2013)7.
Results:
The result is consistent with associated autosomal recessive CGD in a female patient.
†The appropriate age-related reference values for absolute neutrophil count will be provided on the report.
These values are representations of possible DHR outcomes. Because of heterogeneity in disease severity and genotype, outcomes will vary.
References: 1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2016. 2. Thomsen IP, Smith MA, Holland SM, Creech CB. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016;4(6):1082-1088. 3. Wolfe LC, Keefe E. Pediatric chronic granulomatous disease clinical presentation. Medscape website. http://emedicine.medscape.com/article/956936-clinical. Updated November 17, 2014. Accessed April 29, 2015. 4. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 5. Test ID: NOXB. Mayo Medical Laboratories website. http://www.mayomedicallaboratories.com/test-updates/attachment.php?id=35440. Published October 8, 2014. Accessed March 4, 2014. 6. Jirapongsananuruk O, Malech HL, Kuhns DB, et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol. 2003;111(2):374-379. 7. Leiding JW, Malech HL, Holland SM. Chronic granulomatous disease. Clinical Focus on Primary Immunodeficiencies. 2013;15:1-9.
ACTIMMUNE® (Interferon gamma-1b) is indicated:
ACTIMMUNE® (Interferon gamma-1b) is indicated: