Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.

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Kanjaksha Ghosh
Kanchan Mishra
Avani Shah
Parizad Patel
Shrimati Shetty


Acute Intermittent Porphyria, Inflammosome, Cryopyrin, autoinflammatory Syndrome, India


An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he 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 NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India.


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1. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nature Immunology 2017, 18 : 832-42.
2. Broderick L, De Nardo D, Franklin BS, Hoffman HM, Latz E. The inflammasomes and autoinflammatory syndromes.Annu Rev Pathol. 2015;10:395-424.
3.Jeru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum. 2011;63:1459–64.
4. Kostik MM, Suspitsin EN, Guseva MN, Levina As, Kazantseva Ay, Sokolenko AP, Imyanitov En. Multigene sequencing reveals heterogeneity of NLRP12 related autoinflammatory disorders. Rheum Internat. 2018. on line march 2018.
5. Vitale A, Rigante D, Maggio MC, Emmi G, Romano M, Silvestri E, Lucherini OM, Emmi L, Gerloni V, Cantarini L. Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.Clin Exp Rheumatol. 2013;31(3 Suppl 77):155-6.
6.Shen M, Tang L, Shi X, Zeng X, Yao Q. NLRP12 autoinflammatory diseases : a Chinese case series and literature review. Clin Rheumatol. 2016,DOI 10.1007/s10067-016-3410-y
7. Lupfer C, Kanneganti T- D. Unsolved mysteries in NLR biology . Front.Immunol. 2013; 4( art 285 ) .1-10.
8.Borte S, Celiksoy MH, Menzel V, Ozkaya O , Ozen FZ, Hammarström L, Yildiran A. Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency. Clin Immunol. 2014 ;154:105-11.
9.terhar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C et al. Treatment of autoinflammatory diseases:results from Eurofever Registry and review. Ann Rheum Dis . 2013;72:678-85.

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