2016年12月2日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI-anchor deficiency caused by the somatic mutation of PIGA gene in a hematopoietic stem cell (PIGA-PNH). Loss of function of PIGA causes loss of GPI anchored proteins including complement regulatory proteins.

2016年12月2日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI-anchor deficiency caused by the somatic mutation of PIGA gene in a hematopoietic stem cell (PIGA-PNH). Loss of function of PIGA causes loss of GPI anchored proteins including complement regulatory proteins.

2024年11月21日 · pigt-pnh 首发的是自身炎症性症状，包括：复发性荨麻疹、关节痛、发热、无菌性脑膜炎 [3] 。通常在自身炎症性症状持续数年后，逐渐出现 pnh 相关症状。

2013年8月15日 · We identified a heterozygous germline splice site mutation in PIGT and a somatic 8-MB deletion in granulocytes affecting the other copy of PIGT. PIGA is essential for GPI anchor synthesis, whereas PIGT is essential for attachment of the preassembled GPI anchor to …

2024年11月21日 · 阵发性睡眠性血红蛋白尿症（paroxysmal nocturnal hemoglobinuria，PNH）是一种罕见的获得性疾病，其特征是由不受控制的补体激活引起的慢性血管内溶血。 该病通常被视作为血液

Variants (also known as mutations) in the PIGT gene cause a rare form of paroxysmal nocturnal hemoglobinuria (PNH), which is a condition that affects blood cells. People with PNH have episodes of blood in the urine (hemoglobinuria) that results from the breakdown of red blood cells.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and ...

2013年8月15日 · Although a single mutation event in the X-chromosomal gene PIGA is known to cause GPI-anchored protein deficiency, 2 such hits are required in the autosomal gene PIGT. Our data indicate that PNH can occur even in the presence of fully assembled GPI if its transfer to proteins is defective in hematopoietic stem cells.

2019年12月2日 · 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.

発作性夜間ヘモグロビン尿症 (PNH)は造血幹細胞のX染色体上の PIGA 遺伝子の突然変異により発症する血液疾患で溶血発作を主症状とする。 GPI-AP生合成と修飾に関わる遺伝子は27個同定されているが、大部分のPNH患者の原因遺伝子は PIGA である。 その理由は PIGA のみがX染色体上の遺伝子で男女とも機能的アレルは1本で1回の体細胞突然変異でGPI欠損細胞になるためと考えられる。 今回、我々は PIGT を原因遺伝子とするPIGT-PNHの4症例を報告した。 患者 …