Table 3.

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

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

Abrreviation: PIDs primary immunodeficiencies, HIGM hyperimmunoglobulin M syndrome, HIES hyper-IgE syndrome, SCID severe combined immunodeficiency, NIH National Institutes of Health

^aThe patient was diagnosed with HIES based on her clinical features and the NIH scoring system

^bThe NIH score of this patient remained substandard to confirmed HIES at his age