原发性免疫缺陷的干细胞移植

Stem cell transplantation for primary immunodeficiencies.

作者信息

Porta F, Forino C, De Martiis D, Soncini E, Notarangelo L, Tettoni K, D'Ippolito C, Soresina R, Shiha K, Berta S, Baffelli R, Bolda F, Bosi A, Schumacher F R, Lanfranchi A, Mazzolari E

机构信息

Oncology-Haematology and BMT Unit, Ospedale dei Bambini, Spedali Civili, Brescia.

出版信息

Bone Marrow Transplant. 2008 Jun;41 Suppl 2:S83-6. doi: 10.1038/bmt.2008.61.

DOI:10.1038/bmt.2008.61

PMID:18545252

Abstract

BMT is curative in almost 75% of children affected by severe primary immunodeficiencies (PIDs). Recently, the chance of cure has increased thanks to the availability of matched unrelated donors (MUDs). Nevertheless, besides the conventional indications to BMT (profound or absent T-cell function, profound or absent natural killer function, known syndromes with T-cell deficiencies), indications to BMT for PIDs affecting the quality of life or having an expectation of life that does not exceed the third-fourth decade remain unclear. Infact, if it is evident that the survival rate in an infant grafted for a PID with a MUD is expected to be more than 80%, alternative treatments such as gene therapy are now available.

摘要

骨髓移植（BMT）对近75%受严重原发性免疫缺陷病（PID）影响的儿童具有治愈作用。近来，由于匹配无关供者（MUD）的可及性，治愈的机会有所增加。然而，除了BMT的传统适应证（严重或缺乏T细胞功能、严重或缺乏自然杀伤细胞功能、已知的伴有T细胞缺陷的综合征）外，对于影响生活质量或预期寿命不超过三四十岁的PID，BMT的适应证仍不明确。事实上，如果明显预计接受MUD移植治疗PID的婴儿存活率超过80%，那么现在已有诸如基因治疗等替代疗法。