%0 Journal Article %T Genetic Analysis of Familial Mediterranean Fever among Egyptian Patients %A Marwa A. Besar %A Adel Abd El Salam %A Asmaa F. Enein %A Samar Tharwat Radwan %A Fatma Hamdy Fouad %A Abeer Saad Ali El Zekred %A Nehed Abdallah Hassan %J Open Journal of Immunology %P 137-147 %@ 2162-4526 %D 2022 %I Scientific Research Publishing %R 10.4236/oji.2022.124010 %X Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different genetic mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the clinical manifestation of FMF in relation to genotype (M680I, M694V, M694I and V726A). Result: The main presentation of studied group was abdominal pain 65.9% (203), followed by fever 60.4% (186) patients. (Mutation M694V) was the commonest 47.6% (297), followed by (Mutation V726A) in 32.8% (169%), then (Mutation M6802) in 23.4% (121) lastly (Mutation M6941) was in 22.1% (114) patients. Fever was highly associated with mutation (V729A) and it was statistically significant (*p value 0.047). Conclusion: Abdominal pain and fever were the most common manifestation of FMF patients. (Mutation M694V), (Mutation V726A) were the most detected mutation. Third age group; fever was associated with genetic mutation (V726A), abdominal pain with (M6941). %K Familial Mediterranean Fever (FMF) %K MEFV Gene %K Mutation (M680I %K M694V %K M694I and V726A) %K Fever %K Abdominal Pain %K Autoinflammatory %U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=122162