| Clinical data | Analytical data | ACE | Non-caseating granulomata | Diagnosis |
---|---|---|---|---|---|
1 | Arthritis, rash, uveitis | Heterozygous p.R334Q | 27.5 | Skin | EOS |
 |  | Mutation at NOD2 gene |  |  |  |
2 | Splenomegaly, | Lymphopenia | Â | Â | CVID |
 | lymphadenopathy, | Thrombocytopenia |  |  | Sarcoid like syndrome |
 | interstitial/nodular | Hypogammaglobulinemia | 92 | Lung |  |
 | lung disease | Poor antibody responses |  |  |  |
3 | Arthritis, rash, uveitis | Â | Â | Â | Â |
 |  | Heterozygous p.C495Y | 19 | Skin | Blau’s syndrome |
 |  | Mutation at NOD2 gene |  | Synovial |  |
 |  |  |  | Liver |  |
4 | Right facial paralysis, parotid enlargement, uveitis, high fever |  | 74.8 |  | Heerfordt’s syndrome |