NLRP12 gene mutation in India: case finding and diagnosis made easy in the days of whole exome sequencing

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...