Distinguishing between the innate immune response due to ocular inflammation and infection in a child with juvenile systemic granulomatous disease treated with anti-TNFalpha monoclonal antibodies.

摘要

Sir, Early-onset sarcoidosis (EOS) is often diagnosed if there is granuiomatous involvement of an organ or sometimes as a diagnosis of exclusion in a child presenting with fever, rash and swollen joints. Recent evidence points to the fact that EOS is synonymous with juvenile systemic granuiomatous disease (JSGD), also eponym-ously known as Blau syndrome (BS) or Jabs disease [1, 2], They share clinical features of uveitis, dermatitis and arthritis, and are caused by inherited (BS) or sporadic (EOS) mis-sense mutations in the NACHT [NAIP (neuronal apoptosis inhibitory protein), CIITA (MHC Class II transcription activator), HET-E (incompatibility locus protein from Podospora anserina) and TP1 (telomerase-associated protein)] protein domain of the NOD2 (CARD15) gene, a major orchestrator during innate immune responses [1, 3],