PMC6776604_01
CGD patient's clinical recordings. (A) Patient's chest X-ray at 15 months of age. Red arrows indicate lesion sites. (B) Dihydrorhodamine (DHR) for patient and healthy donor granulocytes in the resting or activated state. (C) DNA sequencing results for the NCF2 gene. Chromatographs for the mother (top), father (middle), and patient (bottom). The black box shows the sequence depletion in a splicing region (c.256_257+2delAAGT NM_000433), resulting in a K86Ifs*2 residue change in the p67-phox protein. The reverse nucleotide sequences are shown. (D) Patient's thorax computed tomography at 17 months of age. The red arrow indicates the lesion site. MFI, mean fluorescence intensity.
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F1
She developed bilateral pneumonia, which did not respond adequately to ceftriaxone treatment and evolved to necrotizing pneumonia (Figure 1A). Nevertheless, a dihydrorhodamine (DHR) test showed that the patient's stimulated granulocytes presented abnormal ROS production, a characteristic of CGD patients (Figure 1B). Sanger sequencing (Figure 1C). Sanger analysis also showed that the parents were heterozygous for the mutation. Thorax computed tomography revealed pulmonary consolidation in the upper segment of the right lower lobe and areas of retractable stretch marks, with a bilateral sparse sequential aspect that was more evident in the posterior segment of the right upper lobe, the middle lobe, and the lingula (Figure 1D).