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- W2891927282 abstract "Abstract A neonatal boy presented with a persistent urticarial rash. Initial investigations showed raised inflammatory markers and evidence of systemic inflammation. A working diagnosis of cryopyrin‐associated periodic syndrome ( CAPS ) was made, and the patient responded extremely well to Anakinra. Molecular genetic testing revealed a somatic mutation (affecting 12.5% of cells) in the NLRP 3 gene, accounting for the persistent inflammatory state but milder phenotype as seen in our patient." @default.
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- W2891927282 date "2018-09-06" @default.
- W2891927282 modified "2023-10-18" @default.
- W2891927282 title "Neonatal urticaria: Could it be CAPS?" @default.
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- W2891927282 doi "https://doi.org/10.1111/pde.13660" @default.
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