Chronic Granulomatous Disease; Experience of a Rare Primary Immunodeficiency from a Tertiary Care Center in Pakistan
DOI:
https://doi.org/10.51253/pafmj.v74i1.5201Keywords:
Chronic Abscess, Granulomatous Disease, Dihydrorhodamine, Neutrophil oxidative indexAbstract
Objective: To determine the clinical parameters, consanguinity of parents, previous family history of primary
immunodeficiency (PID) and Neutrophil oxidative index (NOI) of Dihydrorhodamine (DHR) assay in chronic granulomatous
disease (CGD).
Study Design: Cross-sectional study.
Place and Duration of Study: Immunology Department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from Jan 2015 to Dec 2020.
Methodology: A total of 18 patients with chronic granulomatous disease were diagnosed over six years by Dihydrorhodamine assay on flow cytometry, in our institute.
Results: The mean age of patients at the time of symptoms was 4.0±3.01 months, while diagnosis was made at the mean age of 42.02±46.00 months. In 6 years, 13(72%) males and 5(28%) females were diagnosed with chronic granulomatous disease by DHR assay on flow cytometry. Parents of fifteen patients (83%) had consanguineous marriages, and 8(44%) patients had positive family history of PIDs. DHR assay showed two mothers had carrier states. The commonest clinical presentation noted was recurrent respiratory tract infections in 16 (89%) patients, repeated abscesses were seen in 13 (72%) and 5(28%) patients had a history of tuberculosis.
Conclusion: Chronic granulomatous disease should be suspected in patients with repeated chest infections (especially with
catalase-positive organisms), abscesses, diarrhoea and death of siblings at an early age with undiagnosed PID.
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References
Sacco KA, Smith MJ, Bahna SL, Buchbinder D, Burkhardt J,
Cooper MA, et al. NAPDH Oxidase-Specific Flow Cytometry
Allows for Rapid Genetic Triage and Classification of Novel
Variants in Chronic Granulomatous Disease. J Clin Immunol
; 40(1): 191-202.
https://doi.org/10.1007/s10875-019-00712-6.
Yu JE, Azar AE, Chong HJ, Jongco AM 3rd, Prince BT.
Considerations in the Diagnosis of Chronic Granulomatous
Disease. J Pediatric Infect Dis Soc 2018; 7(suppl_1): S6-S11.
https://doi.org/10.1093/jpids/piy007.
Assari T. Chronic Granulomatous Disease; fundamental stages in
our understanding of CGD. Med Immunol. 2006; 5:4.
https://doi.org/10.1186/1476-9433-5-4.
Baehner RL, Nathan DG. Leukocyte oxidase: defective activity in
chronic granulomatous disease. Science. 1967; 155(3764): 835-836.
https://doi.org/10.1126/science.155.3764.835.
Panday A, Sahoo MK, Osorio D, Batra S. NADPH oxidases: an
overview from structure to innate immunity-associated
pathologies. Cell Mol Immunol 2015; 12(1): 5-23.
https://doi.org/10.1038/cmi.2014.89.
Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen
E, Cross AR. Hematologically important mutations: X-linked
chronic granulomatous disease (second update). Blood Cells Mol
Dis 2001; 27(1): 16-26.
https://doi.org/10.1006/bcmd.2000.0347.
Arnold DE, Heimall JR. A Review of Chronic Granulomatous
Disease. Adv Ther 2017; 34(12): 2543-2557.
https://doi.org/10.1007/s12325-017-0636-2.
Soler-Palacín P, Margareto C, Llobet P, Asensio O, Hernández
M, Caragol I, et al. Chronic granulomatous disease in pediatric
patients: 25 years of experience. Allergol Immunopathol 2007;
(3): 83-89.
https://doi.org/10.1157/13106774.
Seger RA. Advances in the diagnosis and treatment of chronic
granulomatous disease. Curr Opin Hematol 2011; 18(1): 36-41.
https://doi.org/10.1097/MOH.0b013e32834115e7.
van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH,
Bernatowska E, Corbeel L, et al. Chronic granulomatous disease:
the European experience. PLoS One 2009; 4(4): e5234.
https://doi.org/10.1371/journal.pone.0005234.
Roos D. Chronic granulomatous disease. Br Med Bull 2016;
(1): 50-63.
https://doi.org/10.1093/bmb/ldw009.
Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T,
Osgood S, et al. Common severe infections in chronic
granulomatous disease. Clin Infect Dis 2015; 60(8): 1176-1183.
https://doi.org/10.1093/cid/ciu1154.
Mortaz E, Azempour E, Mansouri D, Tabarsi P, Ghazi M,
Koenderman L, et al. Common Infections and Target Organs
Associated with Chronic Granulomatous Disease in Iran. Int
Arch Allergy Immunol 2019; 179(1): 62-73.
https://doi.org/10.1159/000496181.
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I,
Yılmaz M, et al. Clinical, functional, and genetic characterization
of chronic granulomatous disease in 89 Turkish patients. J
Allergy Clin Immunol 2013; 132(5): 1156-1163.e5.
https://doi.org/10.1016/j.jaci.2013.05.039.
Alimchandani M, Lai JP, Aung PP, Khangura S, Kamal N,
Gallin JI, et al. Gastrointestinal histopathology in chronic
granulomatous disease: a study of 87 patients. Am J Surg Pathol
; 37(9): 1365-1372.
https://doi.org/10.1097/PAS.0b013e318297427d.
Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, et al.
Chronic granulomatous disease: two decades of experience from
a tertiary care centre in North West India. J Clin Immunol 2014;
(1): 58-67.
https://doi.org/10.1007/s10875-013-9963-5.
Bortoletto P, Lyman K, Camacho A, Fricchione M, Khanolkar A,
Katz BZ, et al. Chronic Granulomatous Disease: A Large,
Single-center US Experience. Pediatr Infect Dis J 2015; 34(10):
-1114.
https://doi.org/10.1097/INF.0000000000000840.
Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges
de Oliveira E Jr, et al. Mycobacterial disease in patients with
chronic granulomatous disease: A retrospective analysis of 71
cases. J Allergy Clin Immunol 2016; 138(1): 241-248.e3.
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