Table 1.
Clinical, laboratory, and genetic findings in patients.
| A | B | C | |
|---|---|---|---|
| Ethnical origin | Pakistan | Pakistan | Pakistan |
| Familial disease | No | Yes | No |
| Parental consanguinity | Yes | Yes | Yes |
| Sex | Male | Male | Female |
| STX11 | 173T > C, Leu58Pro hmz | 173T > C, Leu58Pro hmz | 173T > C, Leu58Pro hmz |
| STXBP2 | None detected | None detected | None detected |
| UNC13D | c.811C > T p.Pro271Ser htz | None detected | None detected |
| c.2782C > T p.R928C hmz | |||
| Age at diagnosis-HLH | 2 months | 5 years | 48 months |
| Fever | Yes | Yes | nd |
| Splenomegaly | Yes | Yes | nd |
| Hepatomegaly | Yes | Yes | nd |
| Hb (g/L) | 55 | 71 | nd |
| Neutrophils (109/L) | 0.3 | 0.4 | nd |
| Platelets (109/L) | 13 | 8 | nd |
| Triglycerides (mmol/L) | 5.1 | 5.5 | nd |
| Fibrinogen (g/L) | 0.28 | 0.16 | nd |
| Hemophagocytosis | No | No | nd |
| Ferritin (μg/L) | 8636 | 1929 | nd |
| sCD25 (U/mL) | nd | nd | nd |
| NK cell activitya | Deficient | Deficient | Deficient |
| NK cell degranulation | Deficient | Deficient | Deficient |
| Neurological manifestationsb | None | None | nd |
| Pathological CSF | nd | nd | nd |
| Treatment active disease | Dexa, CsA, etoposide | Dexa, CsA, etoposide | nd |
| Remission at 2 months | Yes | Yes | Lost to follow-up |
| Age at HSCT | 15 months | Not done | nd |
| Outcome | Deceased | Deceased | nd |
aDefective: 10 lytic units or less.
bReported at some point during the course of the disease; nd = no data; Dexa = dexamethasone; CsA = cyclosporine A; HSCT = hematopoietic stem cell transplantation.