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Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature.

作者信息

Hashem Hasan, Alnasser Yazan

机构信息

Department of Pediatrics, King Hussein Cancer Center, Amman, Jordan.

Division of Pediatric Hematology and Oncology and Bone Marrow Transplantation, King Hussein Cancer Center, 202 Queen Rania Street, Amman, 11941, Jordan.

出版信息

J Clin Immunol. 2023 Jul;43(5):907-909. doi: 10.1007/s10875-023-01467-x. Epub 2023 Mar 13.

DOI:10.1007/s10875-023-01467-x
PMID:36913133
Abstract
摘要

相似文献

1
Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature.婴儿原发性骨髓纤维化/VPS45缺乏症的成功造血细胞移植:病例报告及文献综述
J Clin Immunol. 2023 Jul;43(5):907-909. doi: 10.1007/s10875-023-01467-x. Epub 2023 Mar 13.
2
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.如何处理:VPS45 基因突变导致的严重先天性中性粒细胞减少症和骨髓纤维化。
Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7.
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A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.一种导致严重先天性中性粒细胞减少症伴骨髓纤维化的新型纯合VPS45 p.P468L突变。
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The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.VPS45 基因 Thr224Asn 突变与先天性中性粒细胞减少症和婴儿期原发性骨髓纤维化有关。
Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18.
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Rinsho Ketsueki. 2022;63(9):1252-1260. doi: 10.11406/rinketsu.63.1252.
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Nihon Naika Gakkai Zasshi. 2012 Jul 10;101(7):1969-76. doi: 10.2169/naika.101.1969.

本文引用的文献

1
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.如何处理:VPS45 基因突变导致的严重先天性中性粒细胞减少症和骨髓纤维化。
Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7.
2
A congenital neutrophil defect syndrome associated with mutations in VPS45.一种与 VPS45 基因突变相关的先天性中性粒细胞缺陷综合征。
N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.
3
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
VPS45 基因 Thr224Asn 突变与先天性中性粒细胞减少症和婴儿期原发性骨髓纤维化有关。
Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18.
4
Stem cell transplantation in primary myelofibrosis of childhood.儿童原发性骨髓纤维化中的干细胞移植
J Pediatr Hematol Oncol. 2013 Apr;35(3):e120-2. doi: 10.1097/MPH.0b013e31828800cc.