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https://doi.org/10.1016/j.gene.2017.05.013

has been cited by the following article:

• TITLE: Genetic Analysis of Familial Mediterranean Fever among Egyptian Patients

  AUTHORS: Marwa A. Besar, Adel Abd El Salam, Asmaa F. Enein, Samar Tharwat Radwan, Fatma Hamdy Fouad, Abeer Saad Ali El Zekred, Nehed Abdallah Hassan

  KEYWORDS: Familial Mediterranean Fever (FMF), MEFV Gene, Mutation (M680I, M694V, M694I and V726A), Fever, Abdominal Pain, Autoinflammatory

  JOURNAL NAME: Open Journal of Immunology, Vol.12 No.4, December 30, 2022

  ABSTRACT: 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).