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

<div>Representative photographs of the probands diagnosed as NLRP3-AID. (a) Urticarial-like rash on the abdomen of F1-3. (b) Swollen knees of F1-3. (c) Enlarged posterior auricular lymph node in F2-3. (d) Cranial magnetic resonance imaging (MRI) showed obstructive hydrocephalus and atrophy in F1-3. (e) High-resolution computed tomography (HRCT) demonstrated interstitial pneumonia in both lungs of F8-3. Scattered patchy, streaky hyperdense shadows in both lungs with blurred margins. (f) Hydrocephalus face of F1-3. (g) Knee MRI of F1-3 suggested bone destruction of the left patella, synovial hypertrophy, joint effusion, and popliteal cyst. (h) X-ray suggested right distal femur and proximal tibia stem and bone expansion in F8-3. (i) Clubbing fingers of F1-3.</div>

Journal of Immunology Research

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Figure 3: 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 3 | 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 