NLRP12 autoinflammatory disease: a Chinese case series and literature review.

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol (2017) 1.38

The inflammasomes. Cell (2010) 19.37

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell (1999) 5.01

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84

The NLR gene family: a standard nomenclature. Immunity (2008) 4.77

Autoinflammatory disease reloaded: a clinical perspective. Cell (2010) 3.04

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum (2002) 2.58

The NACHT family - a new group of predicted NTPases implicated in apoptosis and MHC transcription activation. Trends Biochem Sci (2000) 2.58

The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem (2005) 2.21

Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series. Clin Exp Rheumatol (2013) 2.09

Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A (2008) 2.06

Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes. J Immunol (2007) 1.97

An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis (2012) 1.36

Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes. J Immunol (2003) 1.33

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol (2014) 1.12

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum (2011) 1.06

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum (2011) 1.03

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis Rheum (2011) 1.00

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years. Semin Immunopathol (2015) 0.94

The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmun Rev (2011) 0.89

Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol (2009) 0.88

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther (2014) 0.84

CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease. Semin Immunopathol (2015) 0.82

Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. Rheumatol Int (2010) 0.80

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. PLoS One (2016) 0.78

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. Mol Vis (2012) 0.75

Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Semin Arthritis Rheum (2015) 0.75