Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses

Figure 2

Summary data of clinical features of NLRP3-AID probands in this study. (a) Boxplot of the age distribution of the probands in this study. The findings of this study were reported using the median and interquartile range (IQR) as statistical measures. The age at the first visit was documented when the patients sought medical care at Yuying Children’s Hospital of Wenzhou Medical University, Children’s Hospital of Nanjing Medical University, or Children’s Hospital of Soochow University. (b) Heat map of the clinical manifestations of the probands in this study. WBC, white blood cell; ESR, erythrocyte sedimentation rate; CRP, C-reaction protein; NA, not available. The horizontal axis represented amino acid changes, and amino acid changes on the same structural domain were indicated by the same color. The vertical axis represents the clinical items. The numerical type was indicated by the color depth, and the binary type was indicated by the colors red and blue, with red representing presence and blue representing absence. The increased levels of WBC, ESR, and CRP were highlighted in bold format. (c) Bar chart of the symptom incidence among the probands in this study. The height of the bar represented the occurrence rate of the symptom among the probands included in this study.

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