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Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype
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  1. Latika Gupta,
  2. Sakir Ahmed,
  3. Bharati Singh,
  4. Satya Prakash,
  5. Shubha Phadke,
  6. Amita Aggarwal
  1. Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
  1. Correspondence to Professor Amita Aggarwal, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India; aa.amita{at}gmail.com

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We read with interest the paper by Ter Haar et al describing 187 patients with undefined autoinflammatory syndromes, some of whom had variants of unknown significance (VOUS) in the known genes.1 Patients with genetic mutations had a higher frequency of family history of similar disorder, suggesting that these variants may have some role to play.

We report a 4-year-old girl who presented with familial cold autoinflammatory syndrome-2 (FCAS2) phenotype and a novel mutation in leucine-rich repeat (LRR) domain of the nucleotide oligomerization domain (NOD)-like receptor protein 12 (NLRP12).2 3

This child had episodic fever each lasting a fortnight and occurring once or twice a month. It was associated with recurrent, watery, non-infective diarrhoea since birth. Stools were occasionally admixed with blood. Colonoscopy was normal but biopsy showed cryptitis. She had several infections in childhood: one probable meningitis, one pneumonia and two episodes of subcutaneous abscesses. She …

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