Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

Table 4

Mutations in CD40L gene and CD40L expression in patients with XHIGM.

Patients ()	Genomic DNA mutation (NC_000023.10)	cDNA mutation (NM_000074.2)	Predicted effect on protein (NP_000065.1)	Affected domain	Exon/intron	CD40L expression	References
P1	g.175delC	c.175delC	p.Gln35ArgfsX36	TM	Exon 1	NA
P2	g.186delG	c.186delG	p.Ser39GlnfsX48	TM	Exon 1	0.09%
P3	g.186delG	c.186delG	p.Ser39GlnfsX48	TM	Exon 1	0.31%
P4	g.6196g>a (IVS2-1g>a)	Skipping exon3	Skipping exon3		Intron 2	NA
P5	g.8181_8182insGT	c.420_421insGT	p.Asp117ValfsX128	ECU	Exon 4	0.02%
P6*	g.10952G>C	c.499G>C	p.Gly167Arg	TNFH	Exon 5	0.27%	[39]
P7*	g.11160C>A	c.707C>A	p.Ser236X	TNFH	Exon 5	0.75%	[36]
P8	g.11069_11072delCTCA	c.616_619delCTCA	p.Leu206GlufsX240	TNFH	Exon 5	0.80%
P9*	g.12090C>A	c.654C>A	p.C218X	TNFH	Exon 5	NA	[18, 19, 43]
P10*	g.10861a>g (IVS4-2a>g)	c.482delTGTTACAG	Exon5 absent	TNFH	Intron 4	0.31%	[37]
P11	g.100C>T	c.100C>T	p.Pro10Ser	IC	Exon 1	4.55%
P12*	g.2091_2094delTAGA	c.158_161delTAGA	p.Ile53LysfsX65	ECU	Exon 2	0.01%	[18, 19, 44, 45]
P13	g.11220T>C	c.767T>C	p.Phe256Ser	TNFH	Exon 5	0.53%
P14	g.11067T>C	c.686T>C	p.Leu205Ser	TNFH	Exon 5	1.78%
P15	g.173_189delcccagatgattgggtca	c.173_189delcccagatgattgggtca	p.Thr34CysfsX42	TM	Exon 1	0.42%
P16*	g.2091_2094delTAGA	c.158_161delTAGA	p.Ile53fsLysX65	ECU	Exon 2	NA	[18, 19, 44, 45]
P17	g.11075G>C	c.694G>C	p.Ala208Pro	TNFH	Exon 5	NA
P18	g.10986delG	c.605delG	p.Cys178PhefsX190	TNFH	Exon 5	NA
P19	g.10882_10883insA	c.501_502insA	p.Gly144ArgfsX158	TNFH	Exon 5	NA
P20*	g.10871T>C	c.490T>C	p.Trp140Arg	TNFH	Exon 5	NA	[19, 38]

Note: *mutation that has been reported. IC: intracytoplasmic domain; TM: transmembrane region; ECU: extracellular unique domain; TNFH: tumor necrosis factor homology domain; NA: not available.