Chronic granulomatous disease: case report

Abstract

DOI: 10.1016/j.rcpe.2015.10.003

Chronic granulomatous disease is a primary immunodeficiency (PID) classified within the phagocytes functional defects associated with mutations in the multi-protein enzyme complex, NADPH oxidase, which are associated with the pattern of inheritance of the disease. X-linked cases have a frequency of 60%, which makes it important to find surrogates of the disease. The clinical manifestations of this disease are recurrent, and with severe infections generated by catalase positive bacteria, as well as yeasts. The most common clinical findings are severe skin infections, lymphadenitis, hepatosplenomegaly, recurrent pneumonia, and granuloma formation in approximately 40% of patients with BCGitis.

The diagnosis of chronic granulomatous disease has traditionally been made with the colorimetric nitro blue tetrazolium (NBT) technique. However, the currently available 1,2,3 dihydrorhodamine assay, which has shown to be more sensitive and specific, in addition to enable detection of the lyonisation phenomenon in mothers carrying the disease, as well as the residual activity of the enzyme.

The aim of this study was to report a case of CGD, and the importance of 1,2,3 dihydrorhodamine test by flow cytometry, as support in its diagnosis. It is a descriptive study case report, and includes a search in the scientific literature, and finding a correlation with clinical and laboratory findings of the patient and the mother.

The end result of the study, a severe decrease was observed in the production of reactive oxygen species (ROS) in the patient, in addition to the lyonisation phenomenon in the mother.

Faced with clinical suspicion of functional impairment of phagocytes, the dihydrorhodamine oxidation test can detect the alteration in the production of reactive oxygen species (ROS) as well as the lyonisation phenomenon.