Table 5.

Hematopoietic stem cell transplantation in IPEX patients.

	Baud et al. (2001)	Wildin et al. (2002)		Mazzolari et al. (2005)	Lucas et al. (2007)	Rao et al. (2007)				Zhan et al. (2008)	Seidel et al. (2009)	Dorsey et al. (2009)	Burroughs et al. (2010)		Kasow et al. (2011)
Age at onset	1 month	3 months	2 months	4 months	<1 year	na	2 months§	na	na	4 months	neonatal	neonatal	2 months	na	1.5 months
Age at BMT	6 months	13 years	9 years	9 months	6 years	7 years	1 years 5 months	4 years	6 months	5 months	11 months	7 months	9 months	16 years	7 months
Mutation	c.1113 T>G	c.1040 G>A	c.748_750 delAAG	Promoter region	Exon 10	Intron 9	c.303_304 delTT	c.1271 G>A	c.1226 A>G	c.1139 C>T	c.3 G>A	c.***878 A>G	c.210 + 2 delT	c.816 + 7 G>C	c.1150 G>A
Conditioning	ATG, Bu, Cx	Cx, TBI, ATG		Flu, Bu, Cx, ATG	Flu, Bu, ATG	ALM, Flu, Melph				ALM, Flu, Cx	ALM, Flu, Melph	ALM, Flu, Melph	Flu, TBI		ALM, Flu, Thio, Melph
CD34+ source	BM	BM	BM	BM	CB	BM	BM	BM	BM	mPB	mPB	BM	mPB	BM	BM
Donor	MRD	MRD	MUD	MRD	MUD, 5/6°	MUD, 8/8°	MUD, 7/8°	MSD, 8/8°	MUD, 8/8°	MUD	MUD, 10/10°	MUD, 10/10°	MUD	MRD	MUD***, 10/10°
Chimerism (%)	100 → 30	100 → 50	100 → 70	70 (Treg 100)	98	na	na	na	na	100	90 Treg, 10 WBC	100	100	100	100 → 30
Remission	Yes*	Yes	Yes**	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
GvHD	na	No	No	No	Gut 2°	Gut 2°	No	No	No	Skin-gut, 2–3°	Skin 2°	Skin 2°	Skin 2°	Gut 2°	No
Outcome	Exitus	Exitus	Exitus	Alive	Alive	Alive	Alive	Alive	Alive	Alive	Alive	Alive	Alive	Alive	Alive

na, not available; ATG, anti-thymoglobulin; Bu, busulfan; Cx, cyclophosphamide; TBI, total body irradiation; Flu, fludarabine; ALM, alemtuzumab; Melph, melphalan; Thio, thiotepa; BM, bone marrow; CB, cord blood; mPB, mobilized peripheral blood; MRD, matched related donor; MUD, matched unrelated donor; GvHD, graft-versus-host disease.

^§The same case is reported also in Moudgil et al. (2007); °degree of HLA-match; *transient remission; **partial remission; ***T and B depleted.