Yıldıran Alişan, Çeliksoy Mehmet Halil, Borte Stephan, Güner Şükrü Nail, Elli Murat, Fışgın Tunç, Özyürek Emel, Sancak Recep, Oğur Gönül
Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Samsun, Turkey.
Leipzig University, Translational Centre for Regenerative Medicine, Leipzig, Germany.
Turk J Haematol. 2017 Dec 1;34(4):345-349. doi: 10.4274/tjh.2016.0477. Epub 2017 Apr 13.
Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.
造血干细胞移植是治疗多种原发性联合免疫缺陷病和吞噬细胞疾病的一种有前景的治愈性疗法。我们回顾性分析了诊断为原发性免疫缺陷病并计划接受造血干细胞移植的儿科患者病例。我们确定了22例接受造血干细胞移植的患者(中位年龄6个月;年龄范围1个月至10岁),诊断各异。患者诊断包括重症联合免疫缺陷(n = 11)、切-希综合征(n = 2)、白细胞黏附缺陷(n = 2)、MHCⅡ类缺陷(n = 2)、慢性肉芽肿综合征(n = 2)、噬血细胞性淋巴组织细胞增生症(n = 1)、威斯科特-奥尔德里奇综合征(n = 1)和奥门综合征(n = 1)。在这22例患者中,7例接受了人类白细胞抗原匹配的相关造血干细胞移植,12例接受了单倍体相合造血干细胞移植,2例接受了匹配的无关造血干细胞移植。结果显示,5例患者出现移植失败。14例患者存活,总生存率为67%。对新生儿进行原发性免疫缺陷病筛查可能会促使及时进行造血干细胞移植。