Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy
Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy
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DOI：
10.1007/s00431-006-0395-6
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发表时间：
2007-11-01
影响因子：
3.6
通讯作者：
Ventura, Alessandro
中科院分区：
文献类型：
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作者：
Taddio, Andrea;Faleschini, Elena;Ventura, Alessandro
FOXP3 基因（位点 Xp11.23-q13.3）[2,4,9]，导致免疫耐受失败。造血干细胞移植（HSCT）是唯一确定的治疗方法，即使其成功率不稳定，也被认为是该疾病的首选治疗方法[6,8,10]。另一方面，据报道，只有两例在没有接受 HSCT 的情况下在病情严重的情况下存活了 10 年 [5, 7]。一名 1 个月大的雄性因严重湿疹（图 1）、顽固性粘液性腹泻和发育迟缓被转诊至我们科室。广泛的调查排除了严重的联合免疫缺陷（SCID）。通过静脉注射免疫球蛋白、环孢菌素 A、类固醇和全肠外营养 (TPN) 控制症状（图 2）。在他出生的第二年，他患上了自身免疫性糖尿病、自身免疫性溶血性贫血（AHA）、炎性间质性肺炎、脱发和甲状腺炎。由于对泼尼松的反应不令人满意，医生开了口服倍他米松，在同等剂量下，其疗效显着提高。父母拒绝骨髓移植。每次感冒后都会出现皮炎、AHA 和肺炎的发作，需要增加类固醇、抗生素和氧气的剂量。环孢素 A（10 毫克/公斤/天）无法减少类固醇的用量，孩子出现了库欣样症状。使用氟达拉滨进行实验性治疗，然后输注在体外用长春新碱和泼尼松处理的自体淋巴细胞，重复两次，从而可以长期减少类固醇剂量（倍他米松 0.5-0.25 毫克/天），并且临床改善相当好，症状重新激活的频率和强度也较低。在
FOXP3 gene (locus Xp11. 23-q13. 3)[2, 4, 9], leading to failure in immune tolerance. Haematopoietic stem cell transplantation (HSCT) is the only definitive therapy and, even if its success is inconstant, it is considered to be the treatment of choice for the disease [6, 8, 10]. On the other hand, just two cases have been reported as surviving the first decade with a severe form of the disease without HSCT [5, 7]. A 1-month-old male was referred to our department for a severe eczema (Fig. 1), intractable mucous diarrhoea and failure to thrive. Extensive investigations ruled out a severe combined immunodeficiency (SCID). Symptoms were controlled with intravenous immunoglobulin, cyclosporin A, steroids and total parenteral nutrition (TPN)(Fig. 2). During his second year of life, he developed autoimmune diabetes, autoimmune haemolytic anaemia (AHA), inflammatory interstitial pneumonia, alopecia and thyroiditis. Due to the unsatisfactory response to prednisone, oral betamethasone was prescribed, with a dramatically greater efficacy at an equipotent dosage. A bone marrow transplantation was refused by the parents. Flares of dermatitis, AHA and pneumonia occurred after every cold and required increasing doses of steroids, antibiotics and oxygen administration. Cyclosporin A (10 mg/kg/day) did not allow a reduction of steroids and the child developed a Cushing-like aspect. An experimental treatment with fludarabine followed by the infusion of autologous lymphocytes treated in vitro with vincristine and prednisone was repeated twice, allowing a prolonged reduction of steroid dosage (0.5–0.25 mg/day of betamethasone) and fairly good clinical improvement with less frequent and less intense reactivation of symptoms. At