Neven Bénédicte, Leroy Sandrine, Decaluwe Hélène, Le Deist Francoise, Picard Capucine, Moshous Despina, Mahlaoui Nizar, Debré Marianne, Casanova Jean-Laurent, Dal Cortivo Liliane, Madec Yoann, Hacein-Bey-Abina Salima, de Saint Basile Geneviève, de Villartay Jean-Pierre, Blanche Stéphane, Cavazzana-Calvo Marina, Fischer Alain
Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Blood. 2009 Apr 23;113(17):4114-24. doi: 10.1182/blood-2008-09-177923. Epub 2009 Jan 23.
Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for severe combined immunodeficiency (SCID). Detailed assessment of the long-term outcome of HSCT, ie, the occurrence of clinical events and the quality and stability of immune reconstitution, is now required. We performed a single-center retrospective analysis of the long-term outcome of HSCT in 90-patient cohort followed for between 2 and 34 years (median, 14 years). Clinical events and immune reconstitution data were collected. Almost half the patients have experienced one or more significant clinical events, including persistent chronic graft-versus-host disease (GVHD), autoimmune and inflammatory manifestations, opportunistic and nonopportunistic infections, chronic human papilloma virus (HPV) infections, and a requirement for nutritional support. With the notable exception of severe HPV infection, these complications tend to become less common 15 years later after HSCT. A multivariate analysis showed that the occurrence of these events correlated with non-genoidentical donors, diagnosis of Artemis SCID, and quality of immune reconstitution. In most cases, HSCT enables long-term survival with infrequent sequelae. However, the occurrence of relatively late-onset complications is a concern that requires specific means of prevention and justifies careful patient follow-up.
异基因造血干细胞移植（HSCT）是治疗重症联合免疫缺陷（SCID）的一种治愈性疗法。现在需要对HSCT的长期结局进行详细评估，即临床事件的发生情况以及免疫重建的质量和稳定性。我们对一个包含90名患者的队列进行了单中心回顾性分析，这些患者接受随访的时间为2至34年（中位数为14年）。收集了临床事件和免疫重建数据。几乎一半的患者经历了一个或多个重大临床事件，包括持续性慢性移植物抗宿主病（GVHD）、自身免疫和炎症表现、机会性和非机会性感染、慢性人乳头瘤病毒（HPV）感染以及对营养支持的需求。除了严重的HPV感染这一显著例外，这些并发症在HSCT后15年往往变得不那么常见。多因素分析表明，这些事件的发生与非基因相同的供体、阿蒂米斯SCID的诊断以及免疫重建的质量相关。在大多数情况下，HSCT能够实现长期生存且后遗症较少。然而，相对迟发性并发症的发生是一个需要关注的问题，需要采取特定的预防措施，并证明对患者进行仔细随访是合理的。
