Cicek Alphan, Schuster Friedhelm R, Boyle Janel O, Hoenig Manfred, Meisel Roland, Ghosh Sujal
Division of Pediatric Stem Cell Therapy, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Moorenstraße 5, 40225, Düsseldorf, Germany.
Department of Pediatrics, Division of Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, CA, USA.
J Clin Immunol. 2025 Feb 11;45(1):74. doi: 10.1007/s10875-025-01863-5.
Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient was admitted to our hospital at 2 weeks of age and was kept in laminar-air flow / hepa-filtered isolation until HSCT was performed at 8 weeks of age with a busulfan, fludarabine conditioning regime. Except few episodes of acute skin graft-versus-host disease (aGVHD) the peritransplant period was uneventful. The patient was discharged 7 weeks post-HSCT. At 18 months of age cochlear implants were placed. The patient was thriving well, showed full donor chimerism and a T cell count > 1000 TCRab + CD3 + cells/µl after one year. Our case highlights that severely immune-compromised patients with RD benefit from early diagnosis by newborn screening, immediate isolation to prevent infections, and early haploidentical HSCT to overcome neonatal neutropenia and establish protective immunity.
网状发育不全（RD）是一种罕见的免疫细胞形成先天性缺陷疾病，其特征为严重联合免疫缺陷、粒细胞缺乏症和感音神经性耳聋。我们报告了一例通过TREC新生儿筛查确诊为RD的男孩成功接受单倍体相合母亲造血干细胞移植（HSCT）的病例。该患者2周龄时入院，一直处于层流/高效空气过滤器隔离状态，直至8周龄时采用白消安、氟达拉滨预处理方案进行HSCT。除了少数几次急性皮肤移植物抗宿主病（aGVHD）发作外，移植期间病情平稳。患者在HSCT后7周出院。18个月龄时植入了人工耳蜗。患者生长良好，一年后显示完全供体嵌合，T细胞计数>1000 TCRab+CD3+细胞/µl。我们的病例表明，患有RD的严重免疫功能低下患者可从新生儿筛查早期诊断、立即隔离以预防感染以及早期单倍体相合HSCT中获益，以克服新生儿中性粒细胞减少症并建立保护性免疫。
