MLchartDataset catalogue

Blau syndrome

Term · Chemistry · MLC-T-CHM-001372

A rare, autosomal dominant genetic inflammatory disorder characterized by the triad of granulomatous arthritis, dermatitis, and uveitis. The condition is caused by mutations in the NOD2 gene, which leads to constitutive activation of the NF-κB signaling pathway and chronic inflammation. Symptoms typically manifest in early childhood, before the age of four.

Table 1. Record
IdentifierMLC-T-CHM-001372
FieldChemistry
SubjectChemistry and Human Health
ReferencesPAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1135 (https://doi.org/10.1351/PAC-REC-11-06-03)
See alsoArthritis; Dermatitis
Record as JSON 
{
  "id": "MLC-T-CHM-001372",
  "term": "Blau syndrome",
  "field": "Chemistry",
  "definition": "A rare, autosomal dominant genetic inflammatory disorder characterized by the triad of granulomatous arthritis, dermatitis, and uveitis. The condition is caused by mutations in the NOD2 gene, which leads to constitutive activation of the NF-κB signaling pathway and chronic inflammation. Symptoms typically manifest in early childhood, before the age of four.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "arthritis",
    "dermatitis"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1135 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/blau-syndrome/"
}

Record 1,469 of 13,676 in Chemistry terminology (MLC-0109). Request the full dataset.