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Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events
- Source :
- Case Reports in Hematology, Case Reports in Hematology, Vol 2017 (2017)
- Publication Year :
- 2017
- Publisher :
- Hindawi Publishing Corporation, 2017.
-
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.
- Subjects :
- 0301 basic medicine
business.industry
lcsh:RC633-647.5
Familial Mediterranean fever
Case Report
General Medicine
lcsh:Diseases of the blood and blood-forming organs
Neutropenia
medicine.disease
MEFV
3. Good health
03 medical and health sciences
Cyclic neutropenia
030104 developmental biology
Quality of life
Refractory
Immunology
Mutation (genetic algorithm)
medicine
Mutation testing
business
Subjects
Details
- Language :
- English
- ISSN :
- 20906579 and 20906560
- Volume :
- 2017
- Database :
- OpenAIRE
- Journal :
- Case Reports in Hematology
- Accession number :
- edsair.doi.dedup.....5d3d75da3269a404108073c83afc75fc