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- W2791031810 abstract "Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease (AID) characterized by self-limited inflammatory attacks of fever and serosal tissues inflammation. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response. The objectives of the investigation were to evaluate the clinical symptoms and screen the most common MEFV variants in the Egyptian FMF patients. 818 FMF patients were enrolled in this study based on clinical criteria. Three different screening molecular methods were used; ARMs, strip assay and direct Sanger sequencing. The most frequent clinical presentations of the patients were abdominal pain, fever and arthritis. Most of the patients responded to colchicine therapy. MEFV gene mutations were detected in 60% of the patients. The most common mutations were; M694I (27.59%), M762A (16.84%), M680I (16.02%), E148Q (10.34%) and M694V (9.33%). This is the largest study on FMF from Egypt. Exon 10 of the MEFV gene recorded hot spot variants in the studied Egyptian FMF patients. We suggest screening for exon 10 as the first step in molecular characterization of FMF patients. Although none of the mutations in exon 10 and 2 were detected in 49.3% of our patients, despite all of them suffered from FMF symptoms and responded well to colchicines. This study recommends full sequencing to MEFV gene in these patients which may help to discover new mutations in Egyptian FMF patients and to design a local diagnostic kit." @default.
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- W2791031810 date "2018-06-01" @default.
- W2791031810 modified "2023-09-27" @default.
- W2791031810 title "Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever" @default.
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- W2791031810 cites W1966458999 @default.
- W2791031810 cites W1966757575 @default.
- W2791031810 cites W1972639072 @default.
- W2791031810 cites W1975425260 @default.
- W2791031810 cites W1976339111 @default.
- W2791031810 cites W1980261719 @default.
- W2791031810 cites W1980442164 @default.
- W2791031810 cites W1980991473 @default.
- W2791031810 cites W1990593128 @default.
- W2791031810 cites W1999280038 @default.
- W2791031810 cites W2002466168 @default.
- W2791031810 cites W2005376832 @default.
- W2791031810 cites W2005965882 @default.
- W2791031810 cites W2010334869 @default.
- W2791031810 cites W2012594146 @default.
- W2791031810 cites W2013679110 @default.
- W2791031810 cites W2015088099 @default.
- W2791031810 cites W2015206858 @default.
- W2791031810 cites W2015992102 @default.
- W2791031810 cites W2024585295 @default.
- W2791031810 cites W2025805306 @default.
- W2791031810 cites W2026688768 @default.
- W2791031810 cites W2029503560 @default.
- W2791031810 cites W2032140602 @default.
- W2791031810 cites W2032582806 @default.
- W2791031810 cites W2039924576 @default.
- W2791031810 cites W2046271036 @default.
- W2791031810 cites W2050356748 @default.
- W2791031810 cites W2056088720 @default.
- W2791031810 cites W2074580772 @default.
- W2791031810 cites W2078736918 @default.
- W2791031810 cites W2082209181 @default.
- W2791031810 cites W2082426990 @default.
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- W2791031810 cites W2083371762 @default.
- W2791031810 cites W2085984435 @default.
- W2791031810 cites W2086559156 @default.
- W2791031810 cites W2088040350 @default.
- W2791031810 cites W2092374296 @default.
- W2791031810 cites W2093950339 @default.
- W2791031810 cites W2101238729 @default.
- W2791031810 cites W2111812470 @default.
- W2791031810 cites W2112259768 @default.
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- W2791031810 cites W2144492050 @default.
- W2791031810 cites W2145082612 @default.
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- W2791031810 cites W2155253341 @default.
- W2791031810 cites W2156410123 @default.
- W2791031810 cites W2157969870 @default.
- W2791031810 cites W2158142197 @default.
- W2791031810 cites W2158754862 @default.
- W2791031810 cites W2164773215 @default.
- W2791031810 cites W2167353300 @default.
- W2791031810 cites W2171237154 @default.
- W2791031810 cites W2171321813 @default.
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- W2791031810 doi "https://doi.org/10.1016/j.genrep.2018.01.008" @default.
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