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2021, Number 2

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Rev Cubana Hematol Inmunol Hemoter 2021; 37 (2)

Chronic granulomatous disease: genetic and molecular pathophysiology. Effective diagnostic tests

Hernández RE, Marsán SV

Language: Spanish
References: 50
Page: 1-17
PDF size: 342.26 Kb.


ABSTRACT

Introduction: Chronic granulomatous disease is a congenital primary immunodeficiency of the innate immune system, caused by defects in the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex present in phagocytic cells. These functional defects cause inability to produce reactive oxygen species in phagocytes, affecting the elimination of some pathogenic microorganisms within the phagolysosome. The diagnosis of this disease is currently made by means of the 1,2,3-dihydrorodamine test assisted by multiparametric flow cytometry, or the staining of phagocytes with nitro-blue tetrazolium assisted by light microscopy.
Objectives: To characterize molecular and pathophysiologically the chronic granulomatous disease; and to discuss aspects related to the aforementioned diagnostic tests.
Methods: In this work, a bibliographic-documentary research was carried out from scientific articles published from 1933 to 2018, for which the SciELO, PubMed and Springer databases were consulted.
Development: The pathophysiological characteristics of chronic granulomatous disease are exposed, as well as the relationship between the most abundant genetic mutations in the affected population, and the severity of the clinical manifestations presented by the patients. In addition, the benefits and deficiencies of two techniques currently used to diagnose the disease are critically analyzed.
Conclusions: Chronic granulomatous disease can generate severe immunological and inflammatory consequences, which are in line with the genetic characteristics expressed in the damaged enzyme complex. The diagnosis of the disease is more reliable, exhaustive and specific, using flow cytometry and its 1,2,3-dihydrorodamine test.


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