Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder characterized by hemolysis, thrombosis, and bone marrow failure caused by defective expression of glycosylphosphatidylinositol-anchored (GPI-anchored) complement inhibitors. Most commonly, PNH is caused by loss of function of PIGA, which is required for GPI biosynthesis. In this issue of the JCI, Höchsmann et al. report on 4 PNH patients who also had marked autoinflammatory manifestations, including aseptic meningitis. All 4 patients had a germline mutation of the related gene PIGT and a somatically acquired myeloid common deleted region (CDR) on chromosome 20q that deleted the second PIGT allele. The biochemistry and clinical manifestations indicate that these patients have subtle but important differences from those with PNH resulting from PIGA mutations, suggesting PIGT-PNH may be a distinct clinical entity.

中文翻译：

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阵发性夜间血红蛋白尿，无GPI锚固缺乏症。

阵发性夜间血红蛋白尿（PNH）是一种获得性疾病，其特征在于糖基磷脂酰肌醇锚定（GPI锚定）补体抑制剂表达缺陷引起的溶血，血栓形成和骨髓衰竭。最常见的是，PNH是由PIGA功能丧失引起的，这是GPI生物合成所必需的。在JCI的这一期中，Höchsmann等人。报道了4名PNH患者，他们也有明显的自身炎症表现，包括无菌性脑膜炎。所有4例患者均具有相关基因PIGT的种系突变，并且在染色体20q上具有体细胞获得的髓样共同缺失区（CDR），该区域删除了第二个PIGT等位基因。生化和临床表现表明，这些患者与PIGA突变导致的PNH患者存在细微但重要的差异，