Cohort of patients with Chediak-Higashi syndrome
| Patient no. . | LYST mutations . | Age at onset of HLH . | NK cell cytotoxicity . | NK cell degranulation . | Potential trigger . |
|---|---|---|---|---|---|
| Early-onset | |||||
| 1 | IVS24 c.7060–1G > A acceptor splice site, homozygous | 4 mo | — | ND | None |
| 2 | EX6 c.2570C > G; p.Ser857Cys missense mutation, homozygous EX44 c.9930delT; p.Phe3310LeufsX36 small deletion, homozygous | 18 mo | ND | — | EBV |
| 3 | EX46 c.10551_10552del2; p.Tyr3517X nonsense mutation, homozygous | 5 mo | ND | — | None |
| 4 | EX18 c.5506C > T: p.Arg1836X nonsense mutation, homozygous | 4 mo | ND | ND | Influenza |
| 5 | IVS24 c.7060–1G > T acceptor splice site, heterozygous IVS51 c.11196–1G > A acceptor splice site, heterozygous | No (HSCT 6 mo) | — | ND | None |
| Later-onset | |||||
| 6 | EX6 c.2374_2375delGA; p.Asp792PhefsX6 small deletion, homozygous | 8 y | — | ND | Unknown |
| 7 | EX12 c.4508C > G; p.Ser1483X nonsense mutation, homozygous | 4 y | — | — | None |
| 8 | EX12 c.4508C > G; p.Ser1483X nonsense mutation, homozygous | 3 y | — | — | None |
| 9 | EX18 c.5506C > T; p.Arg1836X nonsense mutation, homozygous | 4 y | — | ND | Salmonella |
| No HLH | |||||
| 10 | IVS19 c.5784 + 5G > T splice donor site, homozygous | No | — | — | NA |
| 11 | EX5 c.575_576insT; p.Leu192PhefsX5 small insertion, homozygous | No | — | — | NA |
| 12 | EX6 c.3310C > T; p.Arg1104X nonsense mutation, homozygous | No | — | — | NA |
| Patient no. . | LYST mutations . | Age at onset of HLH . | NK cell cytotoxicity . | NK cell degranulation . | Potential trigger . |
|---|---|---|---|---|---|
| Early-onset | |||||
| 1 | IVS24 c.7060–1G > A acceptor splice site, homozygous | 4 mo | — | ND | None |
| 2 | EX6 c.2570C > G; p.Ser857Cys missense mutation, homozygous EX44 c.9930delT; p.Phe3310LeufsX36 small deletion, homozygous | 18 mo | ND | — | EBV |
| 3 | EX46 c.10551_10552del2; p.Tyr3517X nonsense mutation, homozygous | 5 mo | ND | — | None |
| 4 | EX18 c.5506C > T: p.Arg1836X nonsense mutation, homozygous | 4 mo | ND | ND | Influenza |
| 5 | IVS24 c.7060–1G > T acceptor splice site, heterozygous IVS51 c.11196–1G > A acceptor splice site, heterozygous | No (HSCT 6 mo) | — | ND | None |
| Later-onset | |||||
| 6 | EX6 c.2374_2375delGA; p.Asp792PhefsX6 small deletion, homozygous | 8 y | — | ND | Unknown |
| 7 | EX12 c.4508C > G; p.Ser1483X nonsense mutation, homozygous | 4 y | — | — | None |
| 8 | EX12 c.4508C > G; p.Ser1483X nonsense mutation, homozygous | 3 y | — | — | None |
| 9 | EX18 c.5506C > T; p.Arg1836X nonsense mutation, homozygous | 4 y | — | ND | Salmonella |
| No HLH | |||||
| 10 | IVS19 c.5784 + 5G > T splice donor site, homozygous | No | — | — | NA |
| 11 | EX5 c.575_576insT; p.Leu192PhefsX5 small insertion, homozygous | No | — | — | NA |
| 12 | EX6 c.3310C > T; p.Arg1104X nonsense mutation, homozygous | No | — | — | NA |
— indicates absent; ND, not determined; HSCT, hematopoietic stem cell transplantation; and NA, not applicable.