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Papin, S., Cuenin, S., Agostini, L., Martinon, F., Werner, S., Beer, H., et al. (2007) The SPRY Domain of Pyrin, Mutated in Familial Mediterranean Fever Patients, Interacts with Inflammasome Components and Inhibits Proil-1β Processing. Cell Death & Differentiation, 14, 1457-1466.
https://doi.org/10.1038/sj.cdd.4402142

has been cited by the following article:

• TITLE: Genetics-Proven Familial Mediterranean Fever: A Case Report and Review of the Literature

  AUTHORS: Muhammad Shan Ul Abedin, Izza Batool, Faiza Batool

  KEYWORDS: Familial Mediterranean Fever, Abdominal Pain

  JOURNAL NAME: Open Journal of Rheumatology and Autoimmune Diseases, Vol.15 No.2, May 21, 2025

  ABSTRACT: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by relapsing and remitting episodes of fever and serositis. We have a case of a 35-year-old male who presented with nausea, abdominal pain and myalgia for several months. He underwent an extensive workup to rule out diabetic ketoacidosis, celiac disease, gastroparesis, rheumatoid arthritis and porphyria. It was determined that he had heterozygous V726A mutation for the MEFV (Mediterranean fever) gene, suggesting possible FMF. His symptoms responded well to colchicine.