case_images: PMC8255793_01
case_images: 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.
case_images: fimmu-12-685546-g001.jpg
case_images: PMC8255793_01_fimmu-12-685546-g001.jpg
case_images: f1
case_images: Metagenomic next-generation sequencing (mNGS) of pathogenic blood microorganisms confirmed TM infection ( Figure 1 ).
case_images: Family evaluation of CARD9. (A) c.1118G>C p.R373P variation in exon 8. (B) c.610C>T p.R204C variation in exon 4.
case_images: fimmu-12-685546-g002.jpg
case_images: PMC8255793_01_fimmu-12-685546-g002.jpg
case_images: f2
case_images: DNA samples from the patient's family members were collected with their consent ( Figure 2 ).
case_images: Pedigree of CARD9 mutations (Due to death, no genetic analysis was performed for the second elder sister).
case_images: fimmu-12-685546-g003.jpg
case_images: PMC8255793_01_fimmu-12-685546-g003.jpg
case_images: f3
case_images: 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 ).