Table 4 Characteristics and clinical manifestations of patients who died
No. | Genetic Test | Age of diagnosis (y) | Initial presentation | Phenotype | Family history | Medication | Surgery | Cause of death | Months from diagnosis to death | Year of death |
|---|---|---|---|---|---|---|---|---|---|---|
1 | NA | 3 | Abdominal pain, fever | B3 + P | None | CS | Colectomy and enterostomy | Intestinal perforation | 3.2 | 2007 |
2 | NA | 2.3 | Diarrhoea, Blood in stool | B2 | None | CS | – | Infection | 1.5 | 2007 |
3 | NA | 5 | Diarrhoea | B3 + P | None | CS, MES | – | Infection | 11.2 | 2009 |
4 | NA | 0.6 | Diarrhoea | B1 + P | None | IFX, CS | – | Infection | 4.2 | 2010 |
5 | NA | 2 | Diarrhoea | B2 + P | A brother died of diarrhoea | IFX, CS | Enterostomy | Infection | 5.0 | 2011 |
6 | NA | 1 | Diarrhoea | B2B3 + P, L4a | None | CS | – | Infection | 0.6 | 2011 |
7 | NA | 1.5 | Diarrhoea, fever | B2 + P | None | CS, AZA | – | Infection | 43.7 | 2015 |
8 | NA | 0.3 | Diarrhoea, fever | B3 + P | None | CS | – | Infection | 2.0 | 2012 |
9 | ND | 1.5 | Diarrhoea, fever | B2 + P | None | IFX, CS, THD | – | Intestinal perforation | 26.3 | 2014 |
10 | IL-10RA | 0.83 | Diarrhoea, fever | B1 + P | None | IFX, CS, THD | – | Infection | 6.1 | 2014 |
11 | NA | 0.83 | Diarrhoea, fever | B2B3 + P, L4b | None | CS | – | Intestinal perforation | 0.5 | 2014 |
12 | NA | 0.16 | Diarrhoea, fever | B3 + P | None | CS | – | Infection | 2.1 | 2015 |
13 | ND | 2.5 | Diarrhoea, fever | B2 + P | None | IFX, CS | – | Infection | 3.7 | 2014 |
14 | IL-10RA | 0.8 | Diarrhoea, fever | B3 + P | No.17’s sister | THD | – | Infection | 1.6 | 2014 |
15 | ND | 1 | Diarrhoea, fever | B2 + P | None | CS | – | Infection | 10.4 | 2016 |
16 | IL-10RA | 1.67 | Diarrhoea, fever | B1 + P, L4a | None | Antibiotics onlya | – | Infection | 0.4 | 2016 |
17 | IL-10RA | 0.58 | Diarrhoea, fever | B1 | No 14’s younger brother | UCBT | – | Infection after UCBT | 9.5 | 2016 |