Skip to main content

Advertisement

Table 1 Demographic, clinical and subclinical features of seven patients

From: A new category of autoinflammatory disease associated with NOD2 gene mutations

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 LFTa
Familial No No No No No No No
ESRb (mm/hr) 61 5 60 92 10 2 74
CRPc (mg/dl) 7.5 NAd 17.9 7.2 12.3 Normal 38.7
NOD2e 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
TRAPSf NA Negative NA Negative Negative Negative Negative
MEFVg NA NA NA NA Negative NA Negative
  1. aLiver enzymes; berytherocyte sedimentation rate; cc-reactive protein; dnot available; enucleotide oligomerization domain; ftumor necrosis factor receptor associated periodic fever syndrome; gMediterranean fever