case_images: PMC10799342_01
case_images: Cutaneous rash in neonatal NOMID patient at 18 days of life.
case_images: fimmu-14-1291345-g001.jpg
case_images: PMC10799342_01_fimmu-14-1291345-g001.jpg
case_images: f1
case_images: Based on her symptoms and laboratory findings, although the baby was diagnosed with neonatal bacterial meningitis and received meropenem plus vancomycin, treatment was unsuccessful; the neonate still suffered an obvious urticarial-like rash ( Figure 1 ) and chronic recurrent fever.
case_images: Space distribution of missense variant in NLRP3 protein. The dotted line represented hydrogen bond. No significant hydrogen bond loss was found as predicted by SWISS-MODEL, but the side chain changed.
case_images: fimmu-14-1291345-g002.jpg
case_images: PMC10799342_01_fimmu-14-1291345-g002.jpg
case_images: f2
case_images: Genetic testing ultimately confirmed our suspicion, showing the heterozygote mutation c.1210G>C (p.V404L) in exon 4 of the NLRP3 gene ( Figure 2 ) and the electropherograms of the V404L mutation in samples from the patient, father, and mother are shown in  Figure 3 .
case_images: Sequence diagrams for the patient and parents. Genetic testing revealed the patient's novel missense mutation of c.1210G>C (p.V404L) in the NLRP3 gene. No mutations of the NLRP3 gene were found in the parents.
case_images: fimmu-14-1291345-g003.jpg
case_images: PMC10799342_01_fimmu-14-1291345-g003.jpg
case_images: f3
case_images: Genetic testing ultimately confirmed our suspicion, showing the heterozygote mutation c.1210G>C (p.V404L) in exon 4 of the NLRP3 gene ( Figure 2 ) and the electropherograms of the V404L mutation in samples from the patient, father, and mother are shown in  Figure 3 .