Blau syndrome, clinical and genetic aspects

Autoinflammatory Diseases Predominantly Affecting Bone and Joints

“…153 families. 138 The majority are Caucasian, but the disease is not restricted to any race or ethnicity and there is a world-wide distribution. 136À139,143,147,166À168 The classic clinical triad consists of granulomatous arthritis, dermatitis, and uveitis.…”

“…136À139,143,147,166À168 The classic clinical triad consists of granulomatous arthritis, dermatitis, and uveitis. 134,136,138,169 Although the majority of patients develop the classic triad over time, only 42% of individuals reported by Arostegui et al 165 had all three features. With time, it has become increasingly clear that Blau syndrome is a systemic disease.…”

Enfermedades autoinflamatorias en pediatría

“…Luego de la estimulación, NOD2 puede inducir la activación de NF-Kb y la liberación de IL-1b de manera dependiente de la caspasa-1. 51,52 En los pacientes con síndrome de Blau, la mutación causaría una ganancia de la función de la proteína que determina un estado proinflamatorio sostenido. La enfermedad suele comenzar durante los primeros años de vida, con artritis poliarticular simétrica, de característica exuberante, de predominio en los tobillos y las pequeñas articulaciones de las manos.…”

Autoinflammatory diseases in Pediatrics

“…Following stimulation, NOD2 may induce NFKb activation and caspase-1-dependant IL-1b secretion. 51,52 In patients with Blau syndrome, this mutation may cause a gain of the protein function, resulting in a sustained proinflammatory state. This condition usually starts in the first years of life, with symmetrical polyarticular arthritis, which is exuberant and predominantly affects the ankles and the small joints in the hand.…”