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Table 3 Genetic detection and primary immunodeficiencies of the children with T. marneffei

From: Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases

Patient Gene Genetic variation Nucleotide variation PIDs Gene testing
3 Not Found Not Found Not Found Not Determined Whole exome gene sequencing
4 CD40LG Hemizygote c.424_436del HIGM PID genes panel
7 Not done HIESa
9 COPA Heterozygous c.2437G > T Not Determined Whole exome gene sequencing
10 CD40LG Microdeletion > 132 kb HIGM PID genes panel
16 CD40LG Microdeletion c.1978 + 1G > A HIGM PID genes panel
17 CD40LG Hemizygote c.598A > T HIGM PID genes panel
18 IL2RG Hemizygote c.185G > A SCID PID genes panel
19 STAT3 Heterozygous c.1679_1681del Not Determinedb Whole exome gene sequencing
21 STAT3 Heterozygous c.A1593T HIES PID genes panel
  1. Abrreviation: PIDs primary immunodeficiencies, HIGM hyperimmunoglobulin M syndrome, HIES hyper-IgE syndrome, SCID severe combined immunodeficiency, NIH National Institutes of Health
  2. aThe patient was diagnosed with HIES based on her clinical features and the NIH scoring system
  3. bThe NIH score of this patient remained substandard to confirmed HIES at his age