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Periodic fever gene panels

Mikhail M Kostik, Evgeny N Suspitsin, Marina N Guseva, Anastasia S Levina, Anastasia Y Kazantseva, Anna P Sokolenko, Evgeny N Imyanitov
NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune deficiencies (PID). 246 children with periodic fever (PF) of unknown origin were subjects to the next generation sequencing (NGS) analysis; 213 of these patients had signs of primary immunodeficiency (PID) manifested by recurrent infections, while 33 kids had isolated PF...
May 2018: Rheumatology International
Lana Ayesh Habahbeh, Mansour Al Hiary, Samar F Al Zaben, Asim Al-Momani, Rame Khasawneh, Mervat Abu Mallouh, Hayab Farahat
OBJECTIVE: To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. METHOD: This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of panel lines. RESULTS: A total of 1868 (55.6%) samples were found negative, and one or more mutations were detected in 1491 (44...
December 2015: Medical Archives
Carlo De Pieri, Josef Vuch, Eleonora De Martino, Anna M Bianco, Luca Ronfani, Emmanouil Athanasakis, Barbara Bortot, Sergio Crovella, Andrea Taddio, Giovanni M Severini, Alberto Tommasini
BACKGROUND: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. METHODS: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results...
2015: Pediatric Rheumatology Online Journal
Chih-Yuan Cheng, Ching-Wei Wu, Guang-Jan Lin, Wei-Cheng Lee, Maw-Sheng Chien, Chienjin Huang
Classical swine fever virus (CSFV) infection is a severe swine disease, often causing large economic losses. A Pichia pastoris yeast-expressed CSFV glycoprotein E2 (yE2) has been shown to induce a protective immune response against the virus. To improve the expression level of yE2, the first codon of E2 gene, Arg (CGG), which is the least used in P. pastoris, was optimized to the most favorite codon AGA. The yield of E2 protein was remarkably increased in the codon optimized strain (N342). Three truncated E2 subunits encoding the N-terminal 330 (N330), 301 (N301), and 190 (N190) residues, respectively, were also constructed...
March 20, 2014: Journal of Biotechnology
J P Lowings, D J Paton, J J Sands, G M De Mia, D Rutili
Two pairs of oligonucleotide primers were designed that specifically amplified regions of the classical swine fever virus genome. These products, corresponding to a 671 bp portion of the genes encoding the E1 and E2 (gp33 and gp55) proteins and a 1090 bp portion of the putative polymerase gene, were amplified from eight virus isolates which had been responsible for a series of classical swine fever outbreaks in Italy involving both domestic pigs and wild boar. For each virus the fragments were partially sequenced to give 475 bp of the E1/E2 glycoprotein and 212 bp of the putative polymerase gene sequences...
December 1994: Journal of General Virology
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