Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, de Pintelaan 185, Ghent, Belgium.
Blood. 2010 Jul 8;116(1):27-35. doi: 10.1182/blood-2010-01-259168. Epub 2010 Apr 7.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood ( approximately 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.
软骨-毛发发育不全症（CHH）是一种罕见的常染色体隐性遗传病，由 RMRP 基因突变引起。除了身材矮小，CHH 还具有广泛的临床表现，包括不同程度的联合免疫缺陷、自身免疫并发症和恶性肿瘤。以前在有明显免疫缺陷的单一 CHH 患者的报告中表明，同种异体造血干细胞移植（HSCT）是严重免疫缺陷的有效治疗方法，而生长衰竭仍然不受影响。由于目前尚未报道 CHH 患者在 HSCT 后进行更大规模队列的长期经验，我们进行了一项欧洲合作调查，报告了 16 例患有免疫缺陷的 CHH 患者接受 HSCT 的情况。免疫失调、淋巴恶性肿瘤和自身免疫是该队列的重要特征。13 名患者在幼儿期（约 2.5 岁）进行了移植。另外 3 名患者在青少年时期进行了移植。在 16 名患者中，有 10 名（62.5%）长期存活，中位随访时间为 7 年。所有幸存者的 T 淋巴细胞数量和功能均已正常化，自身免疫已得到解决。对于有严重免疫缺陷/自身免疫的 CHH 患者，应在发生严重感染、主要器官损伤或恶性肿瘤可能危及 HSCT 结果和这些患者的生活质量之前，考虑进行 HSCT。
