PMC6141742_01
Clinical record of the patient with CGD. (A) Chest X-ray from the first hospitalization at 3 months of age and (B) thorax computed tomography at 5 months of age. The red arrow indicates the local lesion. (C) DHR of granulocytes in resting or activated states from the patient (Black Line) and a healthy donor (Solid Gray). (D) Flavocytochrome b558 expression in granulocytes from the patient (Black Line), his mother (Dash Line), and a healthy donor (Solid Gray). (E) Sequencing results for the CYBB gene. Chromatographs for the patient (Top), his mother (Middle), and a healthy donor (Bottom). The black arrow shows a single-nucleotide substitution, c.376T > C, that results in a C126R change. (F) We performed sequence analysis using MutationTaster to observe amino acid conservation in alignment with other species and obtain the Grantham matrix score.
fped-06-00248-g0001.jpg
PMC6141742_02_fped-06-00248-g0001.jpg
F1
The hypothesis for primary immunodeficiency in phagocytes was investigated using the dihydrorhodamine (DHR) assay, and the abnormal result of ROS production in granulocytes after stimulation was suggestive of CGD (Figure 1C). The lack of membrane flavocytochrome b558 in this patient in comparison to his mother and a healthy donor suggested gp91phox and p22phox expression failure (Figure 1D). C) in exon 5 that leads to a C126R substitution in the gp91phox protein; conversely, the mother and healthy donor presented the normal sequence, confirming a diagnosis of CGD caused by a de novo mutation (Figure 1E). Cysteine 126 is conserved, and this C126R substitution has a 180 score according to the Grantham matrix in MutationTaster (http://mutationtaster.org) (Figure 1F).
PMC6141742_02
Clinical record of the patient with CGD. (A) Chest X-ray from the first hospitalization at 3 months of age and (B) thorax computed tomography at 5 months of age. The red arrow indicates the local lesion. (C) DHR of granulocytes in resting or activated states from the patient (Black Line) and a healthy donor (Solid Gray). (D) Flavocytochrome b558 expression in granulocytes from the patient (Black Line), his mother (Dash Line), and a healthy donor (Solid Gray). (E) Sequencing results for the CYBB gene. Chromatographs for the patient (Top), his mother (Middle), and a healthy donor (Bottom). The black arrow shows a single-nucleotide substitution, c.376T > C, that results in a C126R change. (F) We performed sequence analysis using MutationTaster to observe amino acid conservation in alignment with other species and obtain the Grantham matrix score.
fped-06-00248-g0001.jpg
PMC6141742_02_fped-06-00248-g0001.jpg
F1
The hypothesis for primary immunodeficiency in phagocytes was investigated using the dihydrorhodamine (DHR) assay, and the abnormal result of ROS production in granulocytes after stimulation was suggestive of CGD (Figure 1C). The lack of membrane flavocytochrome b558 in this patient in comparison to his mother and a healthy donor suggested gp91phox and p22phox expression failure (Figure 1D). C) in exon 5 that leads to a C126R substitution in the gp91phox protein; conversely, the mother and healthy donor presented the normal sequence, confirming a diagnosis of CGD caused by a de novo mutation (Figure 1E). Cysteine 126 is conserved, and this C126R substitution has a 180 score according to the Grantham matrix in MutationTaster (http://mutationtaster.org) (Figure 1F).