PMC8255793_01
Confirmation of talaromyces marneffei specific amplification from plasma by next-generation sequencing. (A) shows the reads mapped to talaromyces marneffei derived from NGS data. A total of 248 reads mapped to talaromyces marneffei in the reference database which contains about 8000 pathogen genomes, and got a total coverage of 0.0085% respectively. (B) shows the distribution of bacterial sequences (N = 529 reads) identified in the patient's plasma included Talaromyces marneffei (N = 248;47%), Cutibacterium, Acinetobacter, Staphylococcus, Acidovorax, Corynebacterium, Malassezia.
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Metagenomic next-generation sequencing (mNGS) of pathogenic blood microorganisms confirmed TM infection ( Figure 1 ).
Family evaluation of CARD9. (A) c.1118G>C p.R373P variation in exon 8. (B) c.610C>T p.R204C variation in exon 4.
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DNA samples from the patient's family members were collected with their consent ( Figure 2 ).
Pedigree of CARD9 mutations (Due to death, no genetic analysis was performed for the second elder sister).
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The patient was found to have a complex heterozygous CARD9 genotype with a c.1118G>C p.R373P variation in exon 8 and a c.610C>T p.R204C variation in exon 4 ( Figure 3 ). In addition, the patient's mother had a c.610C>T p.R204C variation in exon 4 but had no medical history of note( Figure 3 ).