Genophenotype correlation
| . | Group 1, without exon 15 splice-site mutations . | Group 2, with exon 15 splice-site mutations on ≥ 1 allele . | P . |
|---|---|---|---|
| Patients, n | 24 | 13 | |
| Sex, male/female, n | 11/13 | 6/6 | .99 |
| Ethnic origin | .02 | ||
| White, n | 5 | 9 | |
| Turkish, n | 10 | 4 | |
| Arab, n | 7 | 0 | |
| Asian, n | 2 | 0 | |
| HLH in family, n/N | 20/24 | 3/12 | |
| Consanguinity, n/N | 17/22 | 3/13 | |
| Median age at diagnosis (range) | 2 mo (3 d to 11 mo) | 3 y (1.3-19 y) | .003 |
| Episodes with partial or full HLH and remission spontaneously or to steroids only, n/N | 1/21 | 7/12 | .0004 |
| Chronic diarrhea, n/N | 14/19 | 0/11 | .0001 |
| Hypogammaglobulinemia, n/N | 1/8 | 9/10 | .001 |
| Platelet secretion defect, n/N | 2/2 | 2/2 | |
| HSCT, n/N | 16/24 | 10/12 | |
| Median age at HSCT (range) | 6 mo (4 mo to 1.6 y) | 9 y (2.4-24 y) | |
| Median age at death (range) | 7 mo (9 d to 1.3 y) | 8 y (6-16 y) | |
| Outcome alive, n | 14 | 8 | |
| Alive without HSCT, n | 0 | 2 | |
| Death from HLH, n | 8 | 0 | |
| Alive after HSCT, n | 14 | 6 | |
| Death from TRM, n | 2 | 4 |
| . | Group 1, without exon 15 splice-site mutations . | Group 2, with exon 15 splice-site mutations on ≥ 1 allele . | P . |
|---|---|---|---|
| Patients, n | 24 | 13 | |
| Sex, male/female, n | 11/13 | 6/6 | .99 |
| Ethnic origin | .02 | ||
| White, n | 5 | 9 | |
| Turkish, n | 10 | 4 | |
| Arab, n | 7 | 0 | |
| Asian, n | 2 | 0 | |
| HLH in family, n/N | 20/24 | 3/12 | |
| Consanguinity, n/N | 17/22 | 3/13 | |
| Median age at diagnosis (range) | 2 mo (3 d to 11 mo) | 3 y (1.3-19 y) | .003 |
| Episodes with partial or full HLH and remission spontaneously or to steroids only, n/N | 1/21 | 7/12 | .0004 |
| Chronic diarrhea, n/N | 14/19 | 0/11 | .0001 |
| Hypogammaglobulinemia, n/N | 1/8 | 9/10 | .001 |
| Platelet secretion defect, n/N | 2/2 | 2/2 | |
| HSCT, n/N | 16/24 | 10/12 | |
| Median age at HSCT (range) | 6 mo (4 mo to 1.6 y) | 9 y (2.4-24 y) | |
| Median age at death (range) | 7 mo (9 d to 1.3 y) | 8 y (6-16 y) | |
| Outcome alive, n | 14 | 8 | |
| Alive without HSCT, n | 0 | 2 | |
| Death from HLH, n | 8 | 0 | |
| Alive after HSCT, n | 14 | 6 | |
| Death from TRM, n | 2 | 4 |
TRM indicates transplant-related mortality.