Table 1.
Clinical features, laboratory characteristics, and genetic findings of the patients’ cohort.
| Patient code | Ethnicity | Age at diagnosis (months) | Gender | Cytopenia >2 lines | Ferritin (mg/L) | Diagnostic criteria (out of 8) | CNS involvement | Causative gene | Variant | Genotype | Previously described or novel | HSCT | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FHLH | |||||||||||||
| PT#1 | Arab-Qatari | 3 | Female | Yes | >7,500 | 5 | No | PRF1 | NM_001083116.3:c.50del | Homozygous | Previously described (14–22) | Yes | Alive |
| PT#2 | Arab-Qatari | 1 | Female | Yes | >7,500 | 5 | No | PRF1 | NM_001083116.3:c.893A>G | Homozygous | Novel | Yes | Alive |
| PT#3 | Asian | 79 | Male | Yes | 21,225 | 6 | No | NA | NA | NA | NA | No | Dead |
| PT#4 | Asian | 116 | Female | No | 328 | 5 | No | NA | NA | NA | NA | No | Alive |
| PT#5 | Asian | 4 | Female | Yes | 2,139 | 6 | NA | UNC13D | NM_199242.3:c2955-20_2955-1del | Homozygous | Novel | Yes | Alive |
| PT#6 | Asian | 36 | Female | Yes | 40,000 | 5 | No | NA | NA | NA | NA | NA | Alive |
| PT#7 | Arab non-Qatari | 3 | Female | Yes | 16,930 | 6 | No | PRF1 | NM_001083116.3:c.658G>A | Homozygous | Previously described (21) | No | Dead |
| PT#8 | Arab non-Qatari | 88 | Male | No | 69 | CNS only | Yes | PRF1 | NM_001083116.3.c.673C>T | Homozygous | Previously described (15, 17, 22–27) | NA | NA |
| PT#9 | Asian | 6 | Female | Yes | 1,853 | 6 | No | UNC13D | NM_199242.3:c2955-20_2955-1del | Homozygous | Novel | No | Dead |
| PT#10 | Arab non-Qatari | 1.5 | Male | Yes | >7,500 | 5 | No | NA | NA | NA | NA | No | Dead |
| PT#11 | Caucasian | 1.5 | Female | Yes | 3,671 | 6 | Yes | UNC13D | NM_199242.3:c.2346_2349del | Homozygous | Previously described (20, 21, 27–33) | Yes | Dead |
| PT#12 | Asian | 2 | Female | Yes | 1,388 | 7 | Yes | LYST | NM_000081.4.c281C>T | Heterozygous | Novel | No | Alive |
| PT#13 | Arab non-Qatari | 66 | Female | Yes | 1,421 | 5 | Yes | PRF1 |
NM_001083116.3(PRF1):c.133G>A NM_001083116.3(PRF1):c.148G>A |
Heterozygous Heterozygous |
Previously described (15, 20, 34–36) Previously described (15, 20, 23, 37–40) |
Yes | Alive |
| HLH in Griscelli type 2 | |||||||||||||
| PT#14 | Arab non-Qatari | 36 | Female | No | NA | 1 | Yes | RAB27A | NM_183235.3:c.400A>G | Homozygous | Novel | No | Dead |
| PT#15 | Arab non-Qatari | 108 | Male | Yes | NA | 3 | No | RAB27A | NM_183235.3:c.400A>G | Homozygous | Novel | No | Dead |
| PT#16 | Arab non-Qatari | 28 | Female | No | 63 | 1 | Yes | RAB27A | NM_183235.3:c.550C>T | Homozygous | Previously described (20, 21, 41–47) | No | Dead |
| PT#17 | Arab-Qatari | 114 | Male | Yes | 153 | 4 | Yes | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | Yes | Alive |
| PT#18 | Arab-Qatari | 48 | Male | NA | NA | CNS only | Yes | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | Yes | Alive |
| PT#19 | Arab-Qatari | 204 | Male | No | 14 | 2 | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive |
| Griscelli type 2 at risk for HLH | |||||||||||||
| PT#20 | Arab-Qatari | Male | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | Yes | Alive | |
| PT#21 | Arab-Qatari | Male | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#22 | Arab-Qatari | Male | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#23 | Arab-Qatari | Male | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | Yes | Alive | |
| PT#24 | Arab-Qatari | Female | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#25 | Arab-Qatari | Female | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#26 | Arab-Qatari | Female | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#27 | Arab-Qatari | Male | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.244C>T | Homozygous | Previously described (10, 20, 21, 35, 48–52) | No | Alive | |
| PT#28 | Arab non-Qatari | Female | N/A | N/A | N/A | No | RAB27A | NM_183235.3:c.400A>G | Homozygous | Previously described (53) | No | Alive | |
NA, not available.