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We read with great interest the letter by Aggarwal.1 Her case is one of early-onset autoinflammatory disease.
Her case is not directly similar to any of the 187 cases we described in our paper on undefined autoinflammatory diseases.2
Given the finding of novel potentially pathogenic NLRP12-variants in homozygosity, we think the authors have most likely identified a hitherto unknown cause of this child’s symptoms. As such, we recommend the case with all its details to be submitted for publication in a scientific journal.
Handling editor Josef S Smolen
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.
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