Table 1. Clinical and biologic... | American Society of Hematology

Table 1.

Clinical and biologic characteristics of patients with Omenn syndrome

	Patients
	OM1	OM2	OM3	OM4	OM5	OM6	OM7	OM8	OM9
Sex	F	F	M	M	F	F	F	F	M
Age (mo)	4	4	2	2.5	0.2	3	5	4	2
Consanguinity	+	+	+	−	+	−	−	−	−
Lymph (/μL)	8160	9500	19 500	3000	12 700	6000	1500	22 400	10 000
CD3 (/μL)	6000	7700	17 000	2800	6800	4800	1000	18 400	7400
DR+ (/μL)	1800	3700	12 000	nd	5100	nd	850	14 700	nd
CD19 (/μL)	0	190	0	0	127	60	0	0	0
CD56 (/μL)^*	nd	nd	1380	(+)	1900	nd	90	380	nd
IgE (KU/L)	215	>3000	38 300	64	nd	20 000	>1000	nd	nd
Eosino (/μL)	952	1390	10 700	3200	5600	6700	500	nd	nd
Erythrodermia	+	+	+	+	+	+	+	+	+
RAG1/2^†	C2306T	G3030A	ΔT631	1)C1322T	ΔT631	1)G1533A	1)G1983A	1)ΔAA368	1)A1316G
mutations	L732F	R973H	T173FS	R404W	T173FS	R474H	R624H	K86FS	R39G
				2)ΔT2735		2)G2301T	2)A3086G	2)T1111A	2)G1887A
				S875FS		G730F	K992E	Y333X	R229Q
Mutation in T cells	+	+	+	+	+	nd	nd	nd	nd

	Patients
	OM1	OM2	OM3	OM4	OM5	OM6	OM7	OM8	OM9
Sex	F	F	M	M	F	F	F	F	M
Age (mo)	4	4	2	2.5	0.2	3	5	4	2
Consanguinity	+	+	+	−	+	−	−	−	−
Lymph (/μL)	8160	9500	19 500	3000	12 700	6000	1500	22 400	10 000
CD3 (/μL)	6000	7700	17 000	2800	6800	4800	1000	18 400	7400
DR+ (/μL)	1800	3700	12 000	nd	5100	nd	850	14 700	nd
CD19 (/μL)	0	190	0	0	127	60	0	0	0
CD56 (/μL)^*	nd	nd	1380	(+)	1900	nd	90	380	nd
IgE (KU/L)	215	>3000	38 300	64	nd	20 000	>1000	nd	nd
Eosino (/μL)	952	1390	10 700	3200	5600	6700	500	nd	nd
Erythrodermia	+	+	+	+	+	+	+	+	+
RAG1/2^†	C2306T	G3030A	ΔT631	1)C1322T	ΔT631	1)G1533A	1)G1983A	1)ΔAA368	1)A1316G
mutations	L732F	R973H	T173FS	R404W	T173FS	R474H	R624H	K86FS	R39G
				2)ΔT2735		2)G2301T	2)A3086G	2)T1111A	2)G1887A
				S875FS		G730F	K992E	Y333X	R229Q
Mutation in T cells	+	+	+	+	+	nd	nd	nd	nd

nd indicates not determined; IgE, immunoglobulin E; X, nonsense; FS, frameshift.

(+) functional NK activity in OM5.

RAG1 mutations in OM1-8, RAG2 mutations in OM9.