Raktadan Kendra & Research Centre. Udhna Magdalla Road (Nr.
Chosath Joganio Mata Temple), Surat 395002 , Gujrat , India.
2 National Institute of Immunohaematology, 13 the floor KEM hospital MS building, Parel, Mumbai 400012, Maharashtra, India.
| This is an Open Access article distributed
under the terms of the Creative Commons Attribution License
(https://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
otherwise healthy male child of 9 years presented with paroxysmal fever
and diffuse abdominal pain along with the loss of appetite and nausea
lasting for 3-4days every 4-6 weeks in the last two years. He also has
stretchable skin and hypermobile joints, inherited from his mother who
never suffered any paroxysmal attack of the kind. Work up for acute
intermittent porphyria, lead poisoning, and familial Mediterranean
fever was negative. A novel harmful sequence change in the NLRP12 gene
was detected, and a diagnosis of NLRP12 associated autoinflammatory
syndrome was made. This sequence change within the NLRP12 gene causing
disease has not yet been reported in the literature and is the first
such a case reported from India.
|Figure 1. Urine showing mild increase in porphobilinogen( Hoesch test) and partitioning with chloroform in urine of the patient (ruby red color).|
|Figure 2. Expression of NLRP12 in various tissues. (From: https://www.proteinatlas.org/ENSG00000142405-NLRP12/tissue)|