单倍型相合移植治疗放射敏感性严重联合免疫缺陷病
Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease.
作者信息
Saini Manpreet, Khadwal Alka R, Roy Sayan S, Pandiarajan Vignesh, Malhotra Pankaj
机构信息
Clinical Hematology & Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, IND.
Pediatric Allergy and Immunology, Advanced Pediatric Center, Postgraduate Institute of Medical Education and Research, Chandigarh, IND.
出版信息
Cureus. 2023 Sep 13;15(9):e45159. doi: 10.7759/cureus.45159. eCollection 2023 Sep.
Abstract
Severe combined immunodeficiency (SCID) is an inborn error of immunity invariably resulting in mortality in infancy until managed by hematopoietic stem cell transplant (HSCT). We present an unusual case of SCID with a rare mutation involving the non-homologous end-joining 1 (NHEJ1) gene, where a haploidentical HSCT was carried out with modified conditioning and graft versus host prophylaxis regimen using proteasome inhibitor bortezomib with a successful outcome.
摘要
严重联合免疫缺陷（SCID）是一种先天性免疫缺陷病，在进行造血干细胞移植（HSCT）治疗之前，婴儿期患者往往会死亡。我们报告了一例罕见的SCID病例，该病例存在涉及非同源末端连接1（NHEJ1）基因的罕见突变。在此病例中，我们采用改良的预处理方案和使用蛋白酶体抑制剂硼替佐米的移植物抗宿主病预防方案，进行了单倍体相合造血干细胞移植，结果成功。
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