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

血红素加氧酶-1(HO-1)是代谢血红素的限速酶，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，到目前为止已经报告了3例后续病例。5例HO-1缺乏症患者均表现为顽固性全身炎症、脾功能不全、微血管病变和高血压。临床表现为溶血性贫血伴低血清胆红素、血小板增多和肾组织损伤。根据这些数据，我们想介绍HO-1缺乏症作为一种新的自体炎症性疾病。

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.