Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Immunol Invest. 2022 May;51(4):739-747. doi: 10.1080/08820139.2020.1869776. Epub 2021 Jan 21.
We aimed to evaluate hematopoietic stem cell transplantation (HSCT) related outcomes of patients with severe combined immunodeficiency (SCID).
We retrospectively collected data from SCID patients who were diagnosed, followed up and survived at least 2 years after HSCT.
Forty four SCID patients were included in the study. Median age of HSCT and follow-up period after HSCT were 7.1 months and 8.7 years, respectively. Human leukocyte antigen (HLA) identical donors were used in 77.3% (n = 34) of the patients (23 siblings, six fathers, two mothers, three extended family donors), HLA 1-2 mismatched family donors in 11.3% (n = 5), and haploidentical family donors in 11.3% (n = 5). CD3 and CD19 counts were normal in more than 90% and in 45.4% at last follow-up, respectively. Intravenous immunoglobulin (IVIG) could be stopped in 72.7% (n = 32) after HSCT. B+ SCID patients had better CD19 counts than B- ( < .001). T cell numbers, lymphocyte proliferation, IVIG need, immunoglobulin levels, antibody responses did not differ among B- and B+ immunophenotypes. Acute graft-versus-host disease (GVHD) was less in bone marrow transplanted patients (19.4%) than peripheral stem cell (58.3%) transplanted ones ( = .024). There was no correlation between age at transplantation and immune reconstitution. At the last follow-up, 70.2% and 78.3% of the patients had body weight and height above 3 percentile, respectively.
The immune reconstitution and the growth were normal in the majority of SCID patients after HSCT. It may be rational to use bone marrow instead of peripheral stem cell, as acute GVHD was less in bone marrow transplanted patients.
我们旨在评估重型联合免疫缺陷（SCID）患者造血干细胞移植（HSCT）相关结局。
我们回顾性收集了至少在 HSCT 后存活 2 年以上的 SCID 患者的数据。
本研究共纳入 44 例 SCID 患者。HSCT 时的中位年龄和 HSCT 后随访时间分别为 7.1 个月和 8.7 年。77.3%（n=34）的患者使用了人类白细胞抗原（HLA）相同供者（23 例为同胞，6 例为父亲，2 例为母亲，3 例为扩展家族供者），11.3%（n=5）的患者使用了 HLA 1-2 错配的家族供者，11.3%（n=5）的患者使用了半相合家族供者。超过 90%的患者在最后一次随访时 CD3 和 CD19 计数正常，分别有 45.4%的患者 CD19 计数正常。72.7%（n=32）的患者在 HSCT 后可停用静脉注射免疫球蛋白（IVIG）。B+SCID 患者的 CD19 计数优于 B-（<0.001）。B-和 B+免疫表型患者的 T 细胞数量、淋巴细胞增殖、IVIG 需要、免疫球蛋白水平、抗体反应无差异。骨髓移植患者的急性移植物抗宿主病（GVHD）发生率（19.4%）低于外周血干细胞移植患者（58.3%）（=0.024）。移植年龄与免疫重建之间无相关性。最后一次随访时，70.2%和 78.3%的患者体重和身高分别超过第 3 百分位数。
HSCT 后，大多数 SCID 患者的免疫重建和生长正常。骨髓移植可能比外周血干细胞移植更合理，因为骨髓移植患者的急性 GVHD 发生率较低。
