Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

Table 3 Genetic detection of the children with XHIGM

Patient	Gene	Genetic variation	Source	Nucleotide variation	Amino acid mutation	Amino acid variation
1	CD40LG	Hemizygote	Mother	c.424_436del	Frameshift mutation	p.E142Tfs*3
2	CD40LG	Hemizygote	Mother	c.92_104del	Frameshift mutation	p.F31Lfs
3	CD40LG	Hemizygote	Spontaneous mutation	c.488del	Frameshift mutation	p.R165Dfs*26
4	CD40LG	Hemizygote	Spontaneous mutation	c.761C > T	Missense mutation	p.T254M
5	CD40LG	Microdeletion	Mother	> 132 kb	-	-
6	CD40LG	Microdeletion	Mother	c.1978 + 1G > A	-	-
7	CD40LG	Hemizygote	Mother	c.598A > T	Nonsense mutation	p.R200*

ISSN: 1471-2431