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Case Reports in Medicine
Volume 2017 (2017), Article ID 3615354, 5 pages
Case Report

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy

1Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia
2University of Nevada, Reno, Reno, NV, USA
3Kirov Military Medical Academy, Saint Petersburg, Russia
4Human Stem Cell Institute, Moscow, Russia
5Ryazan State Medical University Named after Academician I. P. Pavlov, Ryazan, Russia

Correspondence should be addressed to Albert A. Rizvanov; ur.ufpk@vonavzir.trebla

Received 4 January 2017; Accepted 28 March 2017; Published 13 April 2017

Academic Editor: André Talvani

Copyright © 2017 Svetlana F. Khaiboullina et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients. However, the immune system has been suggested to contribute to muscle cell death and tissue regeneration. Serum levels of 27 cytokines were evaluated in a dysferlinopathy patient. Levels of 8 cytokines differed in patient serum compared to controls. Five cytokines (IL-10, IL-17, CCL2, CXCL10, and G-CSF) were higher while 3 were lower in the patient than in controls (IL-2, IL-8, and CCL11). Together, these data on serum cytokine profile of this dysferlinopathy patient suggest immune response activation, which could explain leukocyte infiltration in the muscle tissue.