BioMed Central, Orphanet Journal of Rare Diseases, 1(10), 2015
DOI: 10.1186/s13023-015-0295-9
BioMed Central, Pediatric Rheumatology, S1(13), 2015
DOI: 10.1186/1546-0096-13-s1-p177
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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.