Table 1:

Case reports of XIAP with colitis presenting during infancy

Publication	n	Symptom onset (months)	Weight (z-score)	HSM	Mutation	Immunosuppression			Colectomy	HSCT	Outcome
						S.T.A.C	Infliximab	Adalimumab
Our Case	1	3	−10.98	HSM	p.951_961 del 11	Yes	No	TLR	No	Yes	Died at 38 mo
(Beser et al., 2016)	1	3	−3.4	HSM	p.Ala459Glyfs*472	Yes	TLR	NR	No	No	Died at 7 years
(Worthey et al., 2011)	1	15	−2.5	HSM	p.C203Y	Yes	NCR	TLR	Yes	Yes	Rem ind- 42 days
(Tsuma et al., 2015) & (Zhao et al., 2010)	1	20	Normal	SM	p.R238X	Yes	No, but tocilizumab was tried		No, colitis developed at 7 yo	Yes	Healthy 11 mo f/u
(Girardelli et al., 2015)	1	2	FTT	HSM	p.N341YfsX7	Yes	NR	TLR	Yes	Yes	Rem ind- 6 mo, healthy 15 mo f/u
(Kelsen et al., 2015)	1	1	Profound growth failure	SM	Whole gene deletion	Yes	NCR	NCR	Yes	Yes	Healthy, 3 years f/u

Ada-Adalimumab, FTT-failure to thrive, HMS-hepatosplenomegaly, HSCT-hematopoetic steam cell transplant, Inf-Infliximab, n-number of patients, NCR-no clinical response, NR-not reported, PR-partial response, Rem-remission induced, S.T.A.C –steroids, or tacrolimus, or azathioprine, cyclosporine; SM-splenomegaly, TLR-time limited response,