Abstract
Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease,
usually presenting as a triad of symptoms (granulomatous dermatitis, uveitis, and
nonerosive arthritis) and caused by gain-of-function mutations in the nucleotide oligomerization
domain 2 (NOD2) gene. However, very few reports in children of copresence of BS with large vessel
vasculitis exist. We hereby describe a case of BS associated with clinical features
of Takayasu arteritis. An 8.5-year-old boy presented with hypertension, cardiac insufficiency,
arthritis, and ocular disease. Among other investigations, he underwent cervical and
chest computed tomography and computed tomography angiography scans that revealed
the presence of type IIa Takayasu arteritis lesions. Genetic analysis revealed a heterozygous
mutation of NOD2 gene leading to the amino acid exchange Arg-587-Cys in the NACHT domain of the NOD2
protein (R587C) as pathogenic cause of BS. He received treatment with prednisolone,
methotrexate, and infliximab (antitumor necrosis factor-α) in addition to antihypertensive
medication with a favorable clinical response. Cases of BS should be investigated
for the coexistence of Takayasu arteritis. However, further research is required to
delineate a possible common pathogenic mechanism between the two clinical entities.
Keywords
autoinflammatory disease - Blau syndrome - Takayasu - NOD2 - anti-TNF-α
