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Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2015
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Title
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
Published in
Orphanet Journal of Rare Diseases, June 2015
DOI 10.1186/s13023-015-0298-6
Pubmed ID
Authors

Yael Shinar, Tali Tohami, Avi Livneh, Ginette Schiby, Abraham Hirshberg, Meital Nagar, Itamar Goldstein, Rinat Cohen, Olga Kukuy, Ora Shubman, Yehonatan Sharabi, Eva Gonzalez-Roca, Juan I. Arostegui, Gideon Rechavi, Ninnette Amariglio, Ophira Salomon

Abstract

A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the hematologic disease progressed. After ruling out other causes for recurrent fever, analysis of the pyrin encoding Mediterranean fever gene (MEFV) was carried out by Sanger sequencing in peripheral blood DNA samples obtained 4 years apart, in buccal cells, laser dissected kidney tubular cells, and FACS-sorted CD3-positive or depleted mononucleated blood cells. Hematopoeitc cells results were validated by targeted deep sequencing. A Sanger sequence based screen for pathogenic variants of the autoinflammatory genes NLRP3, TNFRSF1A and MVK was also performed. A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts. The patient was also heterozygous for the germ line, non-pathogenic NLRP3 gene variant, p.Q705K. Upon the administration of colchicine, the gold standard treatment for familial Mediterranean fever (FMF), the fever attacks subsided. This is the first report of non-transmitted, acquired FMF, associated with a JAK2 driven clonal expansion of a somatic MEFV exon 10 mutation. The non-pathogenic germ line NLRP3 p.Q705K mutation possibly played a modifier role on the disease phenotype.

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Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 15%
Student > Ph. D. Student 4 12%
Other 3 9%
Student > Master 3 9%
Professor 3 9%
Other 12 35%
Unknown 4 12%
Readers by discipline Count As %
Medicine and Dentistry 14 41%
Biochemistry, Genetics and Molecular Biology 4 12%
Agricultural and Biological Sciences 3 9%
Computer Science 2 6%
Nursing and Health Professions 1 3%
Other 3 9%
Unknown 7 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 June 2015.
All research outputs
#4,410,338
of 5,296,399 outputs
Outputs from Orphanet Journal of Rare Diseases
#818
of 903 outputs
Outputs of similar age
#150,618
of 186,796 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#28
of 32 outputs
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