Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events
المؤلفون المشاركون
Yun, Seongseok
Katsanis, Emmanuel
Okolo, Onyemaechi N.
Reveles, Candace Y.
Anwer, Faiz
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-01-18
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Okolo, Onyemaechi N.& Katsanis, Emmanuel& Yun, Seongseok& Reveles, Candace Y.& Anwer, Faiz. 2017. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Okolo, Onyemaechi N.…[et al.]. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Okolo, Onyemaechi N.& Katsanis, Emmanuel& Yun, Seongseok& Reveles, Candace Y.& Anwer, Faiz. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1145892
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر