Table 1.
Results extracted from a review of the literature of sequencing CXCR4 in 26 patients with clinical features of WHIM syndrome.
| Site of Mutation in CXCR4 Protein | # of Patients with Mutation |
|---|---|
| R334X | 15 |
| G336X | 2 |
| S338X | 3 |
| S339fs342X | 2 |
| E343X | 2 |
| No mutation | 2 |