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Response to: ‘Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype’ by Gupta et al
  1. Charlotte Eijkelboom1,
  2. Nienke M Ter Haar2,
  3. Joost Frenkel3,
  4. Marco Gattorno4
  1. 1 Paediatrics, Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands
  2. 2 Laboratory for Translational Immunology, UMC, Utrecht, The Netherlands
  3. 3 General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands
  4. 4 Paediatric Rheumatology, Istituto Giannina Gaslini, Genova, Italy
  1. Correspondence to Dr Joost Frenkel, General Pediatrics, University Medical Center Utrecht, Utrecht 3584, The Netherlands; j.frenkel{at}

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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.

Ethics statements



  • 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.

  • Provenance and peer review Commissioned; internally peer reviewed.

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