Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Immunology Division, Garvan Institute of Medical Research, Sydney, Australia.
Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7.
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to overwhelming infection and early death. This condition is exceedingly rare with only 16 patients previously reported, including four with successful hematopoietic stem cell transplantation. We review the pathophysiology underlying this condition and detail our approach to treatment, particularly vis-à-vis bone marrow transplantation and the challenges of transplanting into a diseased bone marrow niche. We provide an update on the progress of our three previously reported patients, and two additional patients transplanted at our center.
VPS45 基因突变导致一种严重的原发性免疫缺陷，其特征为严重先天性中性粒细胞减少症和原发性骨髓纤维化，导致严重感染和早期死亡。这种情况极其罕见，此前仅报道了 16 例患者，其中 4 例患者造血干细胞移植成功。我们回顾了这种情况的病理生理学，并详细介绍了我们的治疗方法，特别是涉及骨髓移植和移植到患病骨髓龛中的挑战。我们提供了我们之前报告的 3 例患者和我们中心另外 2 例移植患者的最新进展。
