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

AZA azathioprine, CS corticosteroids, EN enteral nutrition, IFX infliximab, MES mesalazine, NA not available, THD thalidomide, ND not detected, UCBT umbilical cord blood trans-plantation

^aOther patients may also use antibiotics but not list in the table