Table 4.
Mutations in CD40L gene and CD40L expression in patients with XHIGM.
| Patients (n = 20) | 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.