Table 1. Clinical features and CARD15... | American Society of Hematology

Table 1.

Clinical features and CARD15 gene mutations of 10 Japanese EOS patients

Patient	Age, y/sex	Age at disease onset	Age at start of oral steroid, y	Skin rash	Uveitis	Arthritis	Lung involvement	Other symptoms	First diagnosis	CARD15 mutations	Selected references
1	27/M	2 y	26	+	+	+	+	NP	AD	R334W	Kanazawa, Matsushima, Kambe, et al¹⁵
2	30/M	2 y	-	+	+	-	-	NP	AD	R334W
3	19/F	1 y	2	+	+	+	-	Hepatosplenomegaly Parotid swelling	JRA	R334W	Sakurai, Nakajima, Kamisue, et al¹⁶
4	29/F	2 y	4	+	+	+	-	NP	EOS	R334W
5	32/F	1 y	-	+	+	+	-	Kveim test positive	EOS	H496L	Shimomura, Tada, Yamamoto, et al¹⁷
6	7/M	7 mo	6	+	+	+	-		EOS	T605P
7	12/F	6 mo	2	+	+	+	-	NP	EOS	N670K	Akiyama, Seno, Tada, et al¹⁸
8	5/M	2 y	3	+	+	+	-	Renal calcification	EOS	M513T
9	16/F	4 y	6	+	+	+	-	NP	JRA	D382E/A612T	Ukae, Tsutsumi, Adachi, et al¹⁹
10	36/F	2 y	4	+	+	+	+	Hepatosplenomegaly Lymphadenopathy Kveim test positive	EOS	-	Ito, Kato, Asano, et al²⁰

Patient	Age, y/sex	Age at disease onset	Age at start of oral steroid, y	Skin rash	Uveitis	Arthritis	Lung involvement	Other symptoms	First diagnosis	CARD15 mutations	Selected references
1	27/M	2 y	26	+	+	+	+	NP	AD	R334W	Kanazawa, Matsushima, Kambe, et al¹⁵
2	30/M	2 y	-	+	+	-	-	NP	AD	R334W
3	19/F	1 y	2	+	+	+	-	Hepatosplenomegaly Parotid swelling	JRA	R334W	Sakurai, Nakajima, Kamisue, et al¹⁶
4	29/F	2 y	4	+	+	+	-	NP	EOS	R334W
5	32/F	1 y	-	+	+	+	-	Kveim test positive	EOS	H496L	Shimomura, Tada, Yamamoto, et al¹⁷
6	7/M	7 mo	6	+	+	+	-		EOS	T605P
7	12/F	6 mo	2	+	+	+	-	NP	EOS	N670K	Akiyama, Seno, Tada, et al¹⁸
8	5/M	2 y	3	+	+	+	-	Renal calcification	EOS	M513T
9	16/F	4 y	6	+	+	+	-	NP	JRA	D382E/A612T	Ukae, Tsutsumi, Adachi, et al¹⁹
10	36/F	2 y	4	+	+	+	+	Hepatosplenomegaly Lymphadenopathy Kveim test positive	EOS	-	Ito, Kato, Asano, et al²⁰

y indicates years; M, male; +, presence; AD, atopic dermatitis; -, absence; F, female; JRA, juvenile rheumatoid arthritis; mo, months; and NP, nothing particular.