Publications by authors named "Maria Antonia Carballo"
Arthritis Rheum
November 2007
Article Synopsis
- The study focuses on Blau syndrome and early-onset sarcoidosis, both linked to the NOD2 gene, exploring their clinical features, treatment outcomes, and genetic mutations in a Spanish pediatric cohort.
- Among 12 patients, only 41.7% exhibited the classic triad of symptoms, while 58.3% had incomplete manifestations, along with some atypical features like fever and myocardiopathy.
- NOD2 gene analysis revealed various mutations, predominantly affecting families, and showed that treatment with anakinra led to significant clinical improvement in one patient, highlighting the potential genetic basis of these chronic conditions.
