Summary of the reported CXCR4 mutations in the WHIM patients
| Nucleotide change . | Mutation . | Amino acid change . | Patients (n) . | References . |
|---|---|---|---|---|
| g.1000C>T | Nonsense | p.R334X | 33 | 3,-5, 8, 14, 15, 27, 32, 37, 39, 44, 45, 49,,,,-54 |
| g.1006G>T | Nonsense | p.G336X | 2 | 8 |
| g.1013C>G | Nonsense | p.S338X | 8 | 5, 8, 14, 15, 38, 55 |
| g.1027G>T | Nonsense | p.E343X | 2 | 3, 5 |
| g.1027G>A | Nonsense | p.E343K | 4 | 17 |
| g.1016-17delCT | Deletion | p.S339fs342X | 4 | 3, 5, 8 |
| g.1021delT | Deletion | p.S341fs365X | 1 | 8 |
| c.969_970insG | Insertion | p.G323fs343X | 2 | 14 |
| c.986-990del TCTCC | Frameshift | p.L329fs | 1 | 21 |
| Wild type | — | No CXCR4 mutation detected | 3 | 3, 14 |
| Nucleotide change . | Mutation . | Amino acid change . | Patients (n) . | References . |
|---|---|---|---|---|
| g.1000C>T | Nonsense | p.R334X | 33 | 3,-5, 8, 14, 15, 27, 32, 37, 39, 44, 45, 49,,,,-54 |
| g.1006G>T | Nonsense | p.G336X | 2 | 8 |
| g.1013C>G | Nonsense | p.S338X | 8 | 5, 8, 14, 15, 38, 55 |
| g.1027G>T | Nonsense | p.E343X | 2 | 3, 5 |
| g.1027G>A | Nonsense | p.E343K | 4 | 17 |
| g.1016-17delCT | Deletion | p.S339fs342X | 4 | 3, 5, 8 |
| g.1021delT | Deletion | p.S341fs365X | 1 | 8 |
| c.969_970insG | Insertion | p.G323fs343X | 2 | 14 |
| c.986-990del TCTCC | Frameshift | p.L329fs | 1 | 21 |
| Wild type | — | No CXCR4 mutation detected | 3 | 3, 14 |