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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2015

Open Access 01-12-2015 | Letter to the Editor

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

Authors: Fawaz Awad, Sophie Georgin-Lavialle, Anne Brignier, Coralie Derrieux, Achille Aouba, Katia Stankovic-Stojanovic, Gilles Grateau, Serge Amselem, Olivier Hermine, Sonia-Athina Karabina

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

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Abstract

We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. Plasma levels of IL-6 and IL-18 were found to be very high, as compared to healthy controls and CMML-free FMF patients.
Our study unveils the interplay between two different disorders involving the same target cells, suggesting that in myelodysplasia with inflammatory manifestations, mutations in genes causing autoinflammatory syndromes, like MEFV, can be present and thus could be sought. Early chemotherapy with interleukin inhibitors could be proposed in such unusual situations.
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Metadata
Title
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
Authors
Fawaz Awad
Sophie Georgin-Lavialle
Anne Brignier
Coralie Derrieux
Achille Aouba
Katia Stankovic-Stojanovic
Gilles Grateau
Serge Amselem
Olivier Hermine
Sonia-Athina Karabina
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-015-0295-9

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