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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