A case of chronic granulomatous disease diagnosed in adulthood
Keywords:Primary immunodeficiency, dihydrorhodamine 123 test, CGD
Chronic granulomatous disease (CGD) is a heterogeneous, inherited primary immunodeficiency disease. It is characterized by granulomatous formations due to increased inflammatory response and recurrent and life-threatening infections occurring because of the defects in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. Diagnosis is made by medical history, clinical findings, and neutrophil function tests, and is confirmed by genotyping. A 26-year-old male patient presented to our emergency polyclinic with complaints of fever, abdominal pain, diarrhea, fatigue, left ear discharge and was hospitalized in our ward for examination and treatment. Since childhood, he suffered from failure to thrive, frequent pneumonia, and skin pruritus. Since the age of 15 years, he underwent surgery for liver abscess and ear surgery due to ear discharge and chronic otitis. Ultrasonography revealed an abscess on the right psoas muscle, compressing the right kidney. Abscess culture was positive for the methicillin-sensitive strain of Staphylococcus aureus and negative for acid-resistant staining (ARB). Aspergillus spp. reproduced in the ear discharge culture. CGD, which is one of the primary immunodeficiency diseases, should be considered in patients presenting with recurrent intraabdominal abscess and respiratory system infections in adulthood.
Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38:3–10.
Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine. 2000;79:170–200.
Stasia MJ, Cathebras P, Lutz MF, Durieu I. La granulomatose septique chronique [Chronic-granulomatous disease]. Rev Med Interne. 2009;30:221–32.
Leiding JW, Holland SM. Chronic granulomatous disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Mefford HC, et al. GeneReviews. 2016. University of Washington, Seattle, WA, USA.
Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol. 2008;30:209-35.
Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9:10.
Lublin M, Bartlett DL, Danforth DN, Kauffman H, Gallin JI, Malech HL, et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg. 2002;235:83–91.
Leiding JW, Freeman AF, Marciano BE, Anderson VL, Uzel G, Malech HL, et al. Corticosteroid therapy for liver abscess in chronic granulomatous disease. Clin Infect Dis. 2011;54:694–700.
van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L. Chronic granulomatous disease: the European experience. PLoS One. 2009;4:5234.
Blumental S, Mouy R, Mahlaoui N, Bougnoux ME, Debre M, Beaute J, et al. Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. Clin Infect Dis. 2011;53:159–69.
Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79:170-200.
Marciano BE, Spalding C, Fitzgerald A. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015;60:1176–83.
Vowells SJ, Fleisher TA, Sekhsaria S. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr. 1996;128:104–7.
Kuhns DB, Alvord WG, Heller T. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363:2600–10.
Filiz S, Kocacık Uygun DF, Yeğin O. Chronic Granulomatous Disease. Turk J Immunol. 2013;1:22-31.
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