PMC9771731_01
CT scans before treatment (A, B) and 3 months later (C, D).
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PMC9771731_01_gr1.jpg
fig1
CT scans taken before treatment (Fig. 1A and B) showed inflammatory lesions in both lungs, along with a mass and incomplete expansion of the upper right lung. The CT scans showed inflammatory lesions in both lungs and incomplete expansion of the upper right lung, with significantly fewer lesions (Fig. 1C and D), without any symptoms of fever or shortness of breath.
(A) Eleven days after admission, diagram shows 23 A. fumigatus reads. (B) Twenty-eight days after admission, diagram shows 64 A. fumigatus reads.
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BALF followed by library construction and high-throughput sequencing performed with an Illumina Nextseq 550Dx sequencer. By sequence alignment, BALF mNGS identified A. fumigatus on day 10 (Fig. 2A) and day 28 (Fig. 2B).
Details of inpatient treatment.
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fig3
The treatment process is outlined in (Fig. 3).
Sequencing maps of NCF1 variants in the infant and his parents.
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We found compound heterozygous mutations in the neutrophil cytosolic factor 1 gene (NCF1), consisting of a heterozygous mutation of paternal NCF1, and a deletion mutation of the maternal NCF1 that resulted in a large deletion of chromosomal segments (copy-number variations) of the gene (Fig. 4).