Table 2. Clinical features of RAG... | American Society of Hematology

Table 2.

Clinical features of RAG-defective patients

Patient	Age at onset	Failure to thrive	Erythroderma	Skin rash	Pneumonia	Lymphoadenopathy	Hepatomegaly	Splenomegaly	Protracted diarrhea	Diagnosis
1	4 mo	+							+	SCID
2	2 mo	+			+				+	SCID
3	1.5 mo	+			+					SCID
4	2 mo	+								SCID
5	4 mo	+			+				+	SCID
6	1 mo						+		+	SCID
7	1 wk			+						SCID
8	4 mo	+		+	+				+	SCID
9a	Birth									SCID
10	1 wk	+							+	SCID with MFT
11	2 wk	+							+	SCID with MFT
12	NA	+			+	+				SCID with MFT
13	2 wk	+		+	+	+				SCID with MFT
9b	2 wk	+	+	+	+	+	+	+		SCID with MFT
14	1 mo	+	+	+		+	+	+	+	SCID with MFT
15	1 mo	+		+	+	+			+	SCID with MFT
16a	2 mo^*	−	−	−	−	−	−	−	−	Atypical SCID/OS
17	3.5 mo	+							+	Atypical SCID/OS
18	2 mo				+		+		+	Atypical SCID/OS
19	3 mo			+						Atypical SCID/OS
20	2.5 mo		+				+		+	Atypical SCID/OS
21	1.5 mo	+	+	+					+	Atypical SCID/OS
22	1 mo	+	+	+	+				+	Atypical SCID/OS
23	1 mo		+	+	+					Atypical SCID/OS
24	Birth		+	+						Atypical SCID/OS
25	1.5 mo	+	+	+	+		+		+	Atypical SCID/OS
26	2 wk	+	+	+	+		+		+	Atypical SCID/OS
27	1.5 mo			+	+	+	+			OS
28	3 mo			+	+	+	+			OS
29	1 mo	+	+	+	+	+	+	+		OS
30a	4 mo	NA	+		NA	+	+	+		OS
30b	4 mo	NA	+		NA	+	+	+		OS
31	1 mo	+	+	+		+	+			OS
32	3 mo	+	+	+	+	+	+	+	+	OS
33	3 mo		+	+		+	+	+	+	OS
34	1 wk	+	+	+		+	+	+	+	OS
35	1 mo	+	+	+		+	+	+	+	OS
16b	4 mo	+	+	+	+	+	+	+	+	OS
36	4 mo	+	+	+	+	+	+	+	+	OS
37	1 mo	+	+	+	+	+	+	+	+	OS
38	1.5 mo	+	+	+	+	+	+	+	+	OS
39	1 mo	+	+	+	+	+	+	+	+	OS
40	1 mo	+	+	+	+	+	+	+	+	OS
41	3 mo	+	+	+	+	+	+	+	+	OS

Patient	Age at onset	Failure to thrive	Erythroderma	Skin rash	Pneumonia	Lymphoadenopathy	Hepatomegaly	Splenomegaly	Protracted diarrhea	Diagnosis
1	4 mo	+							+	SCID
2	2 mo	+			+				+	SCID
3	1.5 mo	+			+					SCID
4	2 mo	+								SCID
5	4 mo	+			+				+	SCID
6	1 mo						+		+	SCID
7	1 wk			+						SCID
8	4 mo	+		+	+				+	SCID
9a	Birth									SCID
10	1 wk	+							+	SCID with MFT
11	2 wk	+							+	SCID with MFT
12	NA	+			+	+				SCID with MFT
13	2 wk	+		+	+	+				SCID with MFT
9b	2 wk	+	+	+	+	+	+	+		SCID with MFT
14	1 mo	+	+	+		+	+	+	+	SCID with MFT
15	1 mo	+		+	+	+			+	SCID with MFT
16a	2 mo^*	−	−	−	−	−	−	−	−	Atypical SCID/OS
17	3.5 mo	+							+	Atypical SCID/OS
18	2 mo				+		+		+	Atypical SCID/OS
19	3 mo			+						Atypical SCID/OS
20	2.5 mo		+				+		+	Atypical SCID/OS
21	1.5 mo	+	+	+					+	Atypical SCID/OS
22	1 mo	+	+	+	+				+	Atypical SCID/OS
23	1 mo		+	+	+					Atypical SCID/OS
24	Birth		+	+						Atypical SCID/OS
25	1.5 mo	+	+	+	+		+		+	Atypical SCID/OS
26	2 wk	+	+	+	+		+		+	Atypical SCID/OS
27	1.5 mo			+	+	+	+			OS
28	3 mo			+	+	+	+			OS
29	1 mo	+	+	+	+	+	+	+		OS
30a	4 mo	NA	+		NA	+	+	+		OS
30b	4 mo	NA	+		NA	+	+	+		OS
31	1 mo	+	+	+		+	+			OS
32	3 mo	+	+	+	+	+	+	+	+	OS
33	3 mo		+	+		+	+	+	+	OS
34	1 wk	+	+	+		+	+	+	+	OS
35	1 mo	+	+	+		+	+	+	+	OS
16b	4 mo	+	+	+	+	+	+	+	+	OS
36	4 mo	+	+	+	+	+	+	+	+	OS
37	1 mo	+	+	+	+	+	+	+	+	OS
38	1.5 mo	+	+	+	+	+	+	+	+	OS
39	1 mo	+	+	+	+	+	+	+	+	OS
40	1 mo	+	+	+	+	+	+	+	+	OS
41	3 mo	+	+	+	+	+	+	+	+	OS

Diagnosed at 2 months of age because an older sibling died with typical OS. The patient immediately underwent allogeneic BMT when still asymptomatic.

NA, not applicable.