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NLRP12 gene mutation in India: case finding and diagnosis made easy in the days of whole exome sequencing
  1. Kanjaksha Ghosh1,2
  1. 1Immunology, National Institute of Immunohematology, Mumbai, India
  2. 2Transfusion Medicine, Surat Raktadan Kendra and Research Centre, Surat, India
  1. Correspondence to Professor Kanjaksha Ghosh, Immunology, National Institute of Immunohematology, Mumbai, Maharashtra 400012, India; kanjakshaghosh{at}hotmail.com

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I read with interest the paper ‘Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype’ by Gupta et al in one of the issues in your esteemed journal.1 We have reported another patient with a different site of mutation in the same gene from another part of India earlier this year.2

Compared with the patient under discussion our patient had a milder phenotype in the form of recurrent fever, abdominal pain, nausea and vomiting lasting for 4–5 days every month along with mood changes and severe loss of appetite. He started his problem much later, that is, at the age of 9 years, and did not have classical skin and joint symptoms but had hypermobility …

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