The discovery of the second case of human heme oxygenase-1 deficiency: biological evidence of HO-1 enzyme

第二例人类血红素加氧酶-1缺乏症的发现：HO-1酶的生物学证据

• 批准号: 23591531
• 负责人: KOIZUMI SHOICHI
• 金额: $ 3.33万
• 依托单位: Kanazawa University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591531/
• 关键词: ヘムオキシゲナーゼ; ヘムオキシゲナーゼ１欠損症; 炎症; 血管炎; 腎尿細管; 溶血性貧血; 血管内皮細胞; ビリルビン代謝; ヘムオキシゲナーゼ１欠損症、インド

Heme oxygenase-1(HO-1) is the rate-limiting enzyme to metabolyze heme, showing antioxidant effects. In 1999, we reported the first case of human HO-1 deficiency. After the 2nd case was discovered in 2011, the 3 subsequent cases have been reported so far. All 5 patients with HO-1 deficiency were characterized by recalcitrant systemic inflammation, asplenia, microangiopathy and hypertention. Clinical data show hemolytic anemia with low serum bilirubin, thrombocytosis and evidences of renal tissue injury. From these data we would like to introduce HO-1 deficiency as a novel autoinflammatory disease.

血红素加氧酶-1（HO-1）是血红素代谢的限速酶，具有抗氧化作用。1999年，我们报道了首例人类HO-1缺乏症。 在2011年发现第二例病例后，迄今已报告了3例后续病例。 5例HO-1缺乏症患者均表现为全身炎症、无脾、微血管病变和高血压。 临床资料显示溶血性贫血伴低血清胆红素、血小板增多和肾组织损伤的证据。 从这些数据中，我们想介绍HO-1缺乏症作为一种新的自身炎症性疾病。

项目成果

An infant with recurrent convulsive seizures of 3 weeks duration: Questions

• DOI: 10.1007/s00467-013-2615-4
• 发表时间: 2014-10
• 期刊: Pediatric Nephrology
• 影响因子: 3
• 作者: M. Shimizu;Y. Niida;S. Koizumi;A. Yachie

Superior Immunomodulatory Effects of Cultured Mast Cells: Potent Strategy for Treatment of Gvhd

培养的肥大细胞的卓越免疫调节作用：治疗 Gvhd 的有效策略

• 发表时间: 2012
• 作者: Raita Araki;Hideaki Maeba;Rie Kuroda;Toshihiro Fujiki;Shintaro Mase;Shoichi Koizumi;Akihiro Yachie;and Ryosei Nishimura
• 通讯作者: and Ryosei Nishimura

Human heme oxygenase(HO)-1 deficiency presenting with hemolysis, nephritis and asplenia.

人血红素加氧酶（HO）-1缺乏症表现为溶血、肾炎和无脾。

• 发表时间: 2011
• 期刊: J Pediatr Hematol Oncol
• 作者: Nita Radhakrishnan;S Prakash Yadav;Taizo Wada;Akihiro Yachie
• 通讯作者: Akihiro Yachie

Allogeneic cytokine-induced killer cells kill dendritic cells efficiently resulting in less graft-versus-host disease

同种异体细胞因子诱导的杀伤细胞有效杀死树突状细胞，从而减少移植物抗宿主病

• 发表时间: 2012
• 作者: Mase,S.;Kuroda,R.;Maeba,H.;Araki,R.;Fujiki,T.;Koizumi,S.;Yachie,A.;Nishimura,R.
• 通讯作者: Nishimura,R.

Evaluating Prolonged Gvhd Based On Monocyte and T-Cell Activation, Leads to Early Detection of Immunological Changes Before Gvhd Exacerbations

根据单核细胞和 T 细胞激活评估延长的 Gvhd，可以在 Gvhd 恶化之前及早检测到免疫变化

• 发表时间: 2012
• 作者: Rie Kuroda;Toshihiro Fujiki;Shintaro Mase;Raita Araki;Hideaki Maeba;Shoichi Koizumi;Akihiro Yachie;and Ryosei Nishimura
• 通讯作者: and Ryosei Nishimura