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Case Reports in Hematology
Volume 2017 (2017), Article ID 5375793, 7 pages
https://doi.org/10.1155/2017/5375793
Case Report

Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events

1Department of Medicine, University of Arizona, Tucson, AZ, USA
2Department of Pediatrics, University of Arizona, Tucson, AZ, USA
3Division of Blood & Marrow Transplantation, University of Arizona, Tucson, AZ, USA
4Department of Pathology, University of Arizona, Tucson, AZ, USA
5Division of Hematology and Oncology, University of Arizona, Tucson, AZ, USA

Correspondence should be addressed to Onyemaechi N. Okolo

Received 21 September 2016; Revised 1 December 2016; Accepted 7 December 2016; Published 18 January 2017

Academic Editor: Kostas Konstantopoulos

Copyright © 2017 Onyemaechi N. Okolo 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.

Abstract

Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case. A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretransplant investigations revealed ELANE mutation positive severe CyN along with familial Mediterranean fever (MEFV) mutation. Intervention. Bone marrow transplantation as treatment for dual mutation (ELANE and MEFV mutation) positive severe CyN. Conclusion. BMT may be considered as an alternative treatment for severe CyN in patients who are refractory to G-CSF. It is postulated that in our patient the combined mutations (CyN and MEFV) may have contributed to the severity of this individual’s symptoms. We suggest CyN patients who present with severe symptoms have evaluation with ELANE mutation testing, Periodic Fever Syndromes Panel, and routine marrow assessment with FISH, conventional cytogenetics, and morphological evaluation for MDS/AML.