Table 1. Genetic and clinical features... | American Society of Hematology

Table 1.

Genetic and clinical features of the 29 NEMO-deficient patients before HSCT

Patient	Age at first symptom (months)	IKBKG mutation	Origin (country)	EDA	Rash	Colitis	O	L	Other symptoms	References
1	0	c.1167_1168insC	USA	Yes	Yes	Yes	No	No		16, 18; A. J. Mancini (pc)
2	2	c.1237insT	France	Yes	No	Yes	Yes	No		C. Picard (pc)
3	0	p.Q157P	USA	Yes	No	No	Yes	Yes	Anemia	25; A. Jain (pc)
4	6	p.F312L	UK	Yes	Yes	No	No	No		W. Qasim (pc)
5	0	p.L153R	USA	Yes	No	Yes	No	No		12, 20, 41
6	2	c.1167-1168insC	Switzerland	Yes	Yes	No	Yes	No	HLH, developmental delay,* MGUS	21; T. Gungor (pc)
7	0	p.G205X	Germany	Yes	Yes	No	No	No		29; S. Ehl (pc)
8	2	p.X420W	UK	Yes	No	Yes	Yes	Yes		1, 14
9	0	c.768+5G>A	USA	Yes	No	Yes	No	Yes		16, 19; J. Orange (pc)
10	30	p.D311E	Japan	Yes	No	No	No	No		22
11	1.5	c.1167_1168insC	USA	Yes	Yes	No	No	Yes	Delayed umbilical cord separation	24; A. Filipovitch (pc)
12	12	p.R254Q	USA	No	No	No	No	No	AIHA	24; A. Filipovitch (pc)
13	9	c.1245insT	UK	Yes	Yes	No	No	No		S. Jolles and M. Abinun (pc)
14	1.5	c.1182_1183delTT	UK	Yes	No	NR	No	No	Erosive arthritis	W. Qasim (pc)
15	9	p.V146G	USA	Yes	Yes	Yes	No	No		9, 27; E. W. Gelfand (pc)
16	6	p.D113N	USA	No	No	No	No	No		9, 10; E. W. Gelfand (pc)
17	12	p.G348X	Japan	Yes	No	Yes	No	No		K. Imai and T. Okano (pc)
18	2	c.1167-1168insC	USA	NR	NR	NR	No	No		J. Orange (pc)
19	1	p.H413P	Brazil	yes	yes	yes	no	no	Ichthyosis vulgaris	30; A. Condino (pc)
20	NR	p.Q391X	Japan	NR	NR	NR	NR	NR		K. Imai (pc)
21	3	p.M407V	USA	No	No	NR	No	No	AIHA, neurological problem	24; A. Filipovitch (pc)
22	NR	p.E315A	USA	Yes	No	No	Yes	No	Seizures (M avium brain lesion), lupus anticoagulant	24; A. Filipovitch (pc)
23	3	p.A162P	New Zealand	Yes	No	Yes	No	No	Hashimoto thyroiditis	N. Cole (pc)
24	4	c.1167-1168insC	UK	Yes	Yes	Yes	No	No		A. Gennery (pc)
25	1.5	c.1167_1168insC	Greece/Italy	Yes	Yes	Yes	Yes	Yes		42
26	0	Duplication intron 3 to exon 6	Japan	Yes	No	Yes	No	No		23
27	0	c.1167_1168insC	Japan	Yes	Yes	Yes	No	No	Colic polyps	15, 17; R. Nishikomori, T. Kawai (pc)
28	1	p.D306N	Mexico	Yes	Yes	Yes	No	No	ITP, intestinal vasculitis†	28; L. Blancas (pc)
29	1	p.Q304-A305insDLP	France	Yes	Yes	Yes	No	No		S. Blanche (pc)

Patient	Age at first symptom (months)	IKBKG mutation	Origin (country)	EDA	Rash	Colitis	O	L	Other symptoms	References
1	0	c.1167_1168insC	USA	Yes	Yes	Yes	No	No		16, 18; A. J. Mancini (pc)
2	2	c.1237insT	France	Yes	No	Yes	Yes	No		C. Picard (pc)
3	0	p.Q157P	USA	Yes	No	No	Yes	Yes	Anemia	25; A. Jain (pc)
4	6	p.F312L	UK	Yes	Yes	No	No	No		W. Qasim (pc)
5	0	p.L153R	USA	Yes	No	Yes	No	No		12, 20, 41
6	2	c.1167-1168insC	Switzerland	Yes	Yes	No	Yes	No	HLH, developmental delay,* MGUS	21; T. Gungor (pc)
7	0	p.G205X	Germany	Yes	Yes	No	No	No		29; S. Ehl (pc)
8	2	p.X420W	UK	Yes	No	Yes	Yes	Yes		1, 14
9	0	c.768+5G>A	USA	Yes	No	Yes	No	Yes		16, 19; J. Orange (pc)
10	30	p.D311E	Japan	Yes	No	No	No	No		22
11	1.5	c.1167_1168insC	USA	Yes	Yes	No	No	Yes	Delayed umbilical cord separation	24; A. Filipovitch (pc)
12	12	p.R254Q	USA	No	No	No	No	No	AIHA	24; A. Filipovitch (pc)
13	9	c.1245insT	UK	Yes	Yes	No	No	No		S. Jolles and M. Abinun (pc)
14	1.5	c.1182_1183delTT	UK	Yes	No	NR	No	No	Erosive arthritis	W. Qasim (pc)
15	9	p.V146G	USA	Yes	Yes	Yes	No	No		9, 27; E. W. Gelfand (pc)
16	6	p.D113N	USA	No	No	No	No	No		9, 10; E. W. Gelfand (pc)
17	12	p.G348X	Japan	Yes	No	Yes	No	No		K. Imai and T. Okano (pc)
18	2	c.1167-1168insC	USA	NR	NR	NR	No	No		J. Orange (pc)
19	1	p.H413P	Brazil	yes	yes	yes	no	no	Ichthyosis vulgaris	30; A. Condino (pc)
20	NR	p.Q391X	Japan	NR	NR	NR	NR	NR		K. Imai (pc)
21	3	p.M407V	USA	No	No	NR	No	No	AIHA, neurological problem	24; A. Filipovitch (pc)
22	NR	p.E315A	USA	Yes	No	No	Yes	No	Seizures (M avium brain lesion), lupus anticoagulant	24; A. Filipovitch (pc)
23	3	p.A162P	New Zealand	Yes	No	Yes	No	No	Hashimoto thyroiditis	N. Cole (pc)
24	4	c.1167-1168insC	UK	Yes	Yes	Yes	No	No		A. Gennery (pc)
25	1.5	c.1167_1168insC	Greece/Italy	Yes	Yes	Yes	Yes	Yes		42
26	0	Duplication intron 3 to exon 6	Japan	Yes	No	Yes	No	No		23
27	0	c.1167_1168insC	Japan	Yes	Yes	Yes	No	No	Colic polyps	15, 17; R. Nishikomori, T. Kawai (pc)
28	1	p.D306N	Mexico	Yes	Yes	Yes	No	No	ITP, intestinal vasculitis†	28; L. Blancas (pc)
29	1	p.Q304-A305insDLP	France	Yes	Yes	Yes	No	No		S. Blanche (pc)

AIHA, autoimmune hemolytic anemia; EDA, ectodermal anhidrotic dysplasia; HLH, hemophagocytic lymphohistiocytosis; ITP, immune thrombocytopenic purpura; L, lymphedema; MGUS, monoclonal gammopathy of undetermined significance; NR, not reported; O, osteopetrosis; pc, personal communication (see supplemental Data).

Subependymal calcifications on brain MRI.

†

Diagnosed on gut angiography.

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