A new category of autoinflammatory disease associated with NOD2 gene mutations

Table 1 Demographic, clinical and subclinical features of seven patients

Patient	1	2	3	4	5	6	7
Gender	Male	Female	Female	Male	Female	Male	Male
Age at diagnosis (years)	41	45	53	28	62	37	40
Disease duration(years)	1	1	8	7	2	2	1
Ethnicity	White	White	White	White	White	White	White
Weight loss	Yes	Yes	No	Yes	Yes	Yes	Yes
Fever	Yes	No	No	Yes	Yes	No	Yes
Skin disease	Yes	Yes	Yes	Yes	Yes	Yes	No
Polyarthritis	Yes	Yes	Yes	No	Yes	Yes	No
Serositis	No	No	No	No	No	Chest pain	Pleuritis/pericarditis
Ocular	Normal	Blurry, dry	Blurry, dry	Normal	Normal	Pain and redness, dry	No
Gastrointestinal	Normal	Pain, diarrhea	Normal	Pain	Normal	Pain and diarrhea, lipasemia	Elevated LFT^a
Familial	No	No	No	No	No	No	No
ESR^b (mm/hr)	61	5	60	92	10	2	74
CRP^c (mg/dl)	7.5	NA^d	17.9	7.2	12.3	Normal	38.7
NOD2^e	IVS8+¹⁵⁸ C > T, R702W	IVS8+¹⁵⁸ C > T, R702W	IVS8+¹⁵⁸ C > T	IVS8+¹⁵⁸ C > T	IVS8+¹⁵⁸ C > T, R702W	IVS8+¹⁵⁸ C > T R702W	IVS8+¹⁵⁸ C > T
TRAPS^f	NA	Negative	NA	Negative	Negative	Negative	Negative
MEFV^g	NA	NA	NA	NA	Negative	NA	Negative

^aLiver enzymes; ^berytherocyte sedimentation rate; ^cc-reactive protein; ^dnot available; ^enucleotide oligomerization domain; ^ftumor necrosis factor receptor associated periodic fever syndrome; ^gMediterranean fever

ISSN: 1478-6362