Figure 1.

Interferon signature in suspected interferonopathies at the CNE3i (Centro Nacional de Erros Inatos da Imunidade e Imunodesregulação) in Brazil. (1) The number of samples received and the main clinical phenotypes. (2) The samples that have already been analyzed, along with the mean interferon score and the mean level of IFN gene expression. (3) The number of individuals who have already been sequenced and the top three diagnoses identified at the CNE3i. IS, interferon score; AGS, Aicardi-Goutières syndrome; PRAAS, proteasome-related autoinflammatory diseases; COPA, coatomer subunit alpha Protein; SAVI, STING-associated vasculopathy with infant onset; SPENCD, spondyloenchondrodysplasia with immune dysregulation.

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