免疫缺陷-着丝粒不稳定-面部畸形（ICF）综合征是一种先天性免疫缺陷，其特征是进行性免疫功能障碍和多器官疾病，通常通过抗菌药物预防和免疫球蛋白替代治疗。异基因造血干细胞移植（HSCT）是唯一的治疗方法，但有关结果的数据很少。我们详细描述了国际 ICF 综合征患者队列的疾病特征和 HSCT 结果。十八名患者（包括所有四种基因型）被纳入。 HSCT的主要适应症是感染（83%）、肠病/生长障碍（56%）、免疫失调（22%）和骨髓增生异常/血液恶性肿瘤（17%）。两名患者在早期诊断后接受了先发制人的 HSCT。 2003年至2021年间，患者在清髓或降低强度调理后，从匹配的兄弟姐妹或匹配的家庭供体、匹配的无关或不匹配的供体中进行移植，中位年龄为4.3岁（范围为0.5-19岁），比例分别为39%、50%和12%分别是案例。总生存率为 83%（所有死亡均发生在 HSCT 后的前 5 个月内；平均随访时间为 54 个月（范围 1-185））。 35% 的患者发生急性 GvHD，其中 2 例 (12%) 发生严重（III 级），而没有人发展为慢性 GvHD。在最近的随访中（中位 2.2 年（范围 0.1-14）），15/17 的存活患者实现了完全供体嵌合。所有幸存者均表现出正常的 T 细胞和 B 细胞数量。除两名患者外，所有患者均实现了免疫球蛋白替代独立性。所有幸存者均从移植前感染、肠病/生长障碍和免疫失调中康复。三名年轻时（≤3岁）接受移植的患者在早期诊断后全部存活。这组患者良好的临床和免疫学 HSCT 结果支持及时使用这种治疗方法治疗 ICF 综合征。© 2024。作者。

Immunodeficiency-Centromeric instability-Facial dysmorphism (ICF) syndrome is an inborn error of immunity characterized by progressive immune dysfunction and multi-organ disease usually treated with antimicrobial prophylaxis and immunoglobulin substitution. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment, but data on outcome are scarce. We provide a detailed description of disease characteristics and HSCT outcome in an international cohort of ICF syndrome patients. Eighteen patients (including all four genotypes) were enrolled. Main HSCT indications were infections (83%), enteropathy/failure to thrive (56%), immune dysregulation (22%) and myelodysplasia/haematological malignancy (17%). Two patients underwent pre-emptive HSCT after early diagnosis. Patients were transplanted between 2003-2021, at median age 4.3 years (range 0.5-19), after myeloablative or reduced-intensity conditioning, from matched sibling or matched family donors, matched unrelated or mismatched donors in 39%, 50% and 12% of cases respectively. Overall survival was 83% (all deaths occurred within the first 5 months post-HSCT; mean follow-up 54 months (range 1-185)). Acute GvHD occurred in 35% of patients, severe (grade III) in two (12%), while none developed chronic GvHD. At latest follow-up (median 2.2 years (range 0.1-14)), complete donor chimerism was achieved in 15/17 surviving patients. All survivors demonstrated normalized T and B cell numbers. Immunoglobulin substitution independence was achieved in all but two patients. All survivors recovered from pre-transplant infections, enteropathy/failure to thrive and immune dysregulation. All three patients transplanted at young age (≤ 3 years), after early diagnosis, survived. The favourable clinical and immunological HSCT outcome in this cohort of patients supports the timely use of this curative treatment in ICF syndrome.© 2024. The Author(s).