NOD2 Investigation

River through forest with mountains
River through forest with mountains

Diagnostic Criteria

SymptomIBDBlauYaoMy Symptoms
DiarrheaX  ✔️
FatigueX  ✔️
Abdominal pain and crampingX  ✔️
Blood in your stoolX  ✔️
Reduced appetiteX   
Unintended weight lossX   
Abnormal inflammation of skin  X 
Abnormal inflammation of joints XX
Abnormal inflammation of gastrointestinal system  X
Episodes of fever XX 
Skin rash 


Arthritis X 
Uveitis X  
Joint Pain X ✔️
Papule X ✔️
Erythema X  

Polyarticular arthritis


Hyperpigmentation of the skin (patchy darkened skin)

Iridocyclitis X  
Synovitis X 
Keratitis X  
Limitation of joint mobility X ✔️
Camptodactyly X  
Cataract X  
Dry skin X ✔️
Glaucoma X  
Photophobia X ✔️
Anaemia X  
Dyspnoea X ✔️

Results from whole genome sequencing (WGS).

NOD2 DNA Results
NOD2 DNA Results


Based on the symptom lists, it is clear that I have a higher amount of symptoms of Blau syndrome, but IBD seems to be a close second as well. Just symptoms aside, when reading about how the diseases present they all sound like they have features that I experience and and autoimmune disease seems likely. I don't feel comfortable specifying which one I definitely have, but would agree it is likely one of them and need to pursue this further.