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Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation.

作者信息

Chen Rong-Long, Hsu Yung-Hsiang, Ueda Ikuyo, Imashuku Shinsaku, Takeuchi Kengo, Tu Benjamin Pang-hsien, Chuang Shih-Sung

机构信息

Division of Paediatric Hematology/Oncology, Cancer Centre, Chi-Mei Medical Centre, Liou Ying Campus, Tainan, Taiwan.

出版信息

J Clin Pathol. 2007 Oct;60(10):1168-9. doi: 10.1136/jcp.2007.049551. Epub 2007 Jun 29.

DOI:10.1136/jcp.2007.049551
PMID:17601962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2014859/
Abstract
摘要

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Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation.
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Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Dec 18;54(6):1208-1213. doi: 10.19723/j.issn.1671-167X.2022.06.025.
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An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.穿孔素基因中的A91V单核苷酸多态性在NK/T细胞淋巴瘤中经常被发现。
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本文引用的文献

1
Pillars article: Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999. 286: 1957-1959.专栏文章：家族性噬血细胞性淋巴组织细胞增生症中的穿孔素基因缺陷。《科学》。1999年。第286卷：第1957 - 1959页。
J Immunol. 2015 Jun 1;194(11):5044-6.
2
Perforin gene mutations in patients with acquired aplastic anemia.获得性再生障碍性贫血患者的穿孔素基因突变
Blood. 2007 Jun 15;109(12):5234-7. doi: 10.1182/blood-2006-12-063495. Epub 2007 Feb 20.
3
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.HLH-2004：噬血细胞性淋巴组织细胞增生症的诊断与治疗指南。
Pediatr Blood Cancer. 2007 Feb;48(2):124-31. doi: 10.1002/pbc.21039.
4
A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?穿孔素中单个氨基酸变化A91V：儿童急性淋巴细胞白血病一种新的常见易感因素？
Haematologica. 2005 May;90(5):697-8.
5
A proportion of patients with lymphoma may harbor mutations of the perforin gene.一部分淋巴瘤患者可能存在穿孔素基因突变。
Blood. 2005 Jun 1;105(11):4424-8. doi: 10.1182/blood-2004-04-1477. Epub 2005 Feb 22.
6
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.日本噬血细胞性淋巴组织细胞增生症患者的特征性穿孔素基因突变
Br J Haematol. 2003 May;121(3):503-10. doi: 10.1046/j.1365-2141.2003.04298.x.
7
Cytophagic histiocytic panniculitis--a critical reappraisal.噬血细胞性组织细胞性脂膜炎——一项批判性重新评估
Arch Dermatol. 2000 Jul;136(7):922-4. doi: 10.1001/archderm.136.7.922.
8
Cytophagic histiocytic panniculitis and subcutaneous panniculitis-like T-cell lymphoma: report of 7 cases.噬血细胞性组织细胞性脂膜炎与皮下脂膜炎样T细胞淋巴瘤：7例报告
Arch Dermatol. 2000 Jul;136(7):889-96. doi: 10.1001/archderm.136.7.889.
9
Cytophagic histiocytic panniculitis--a syndrome associated with benign and malignant panniculitis: case comparison and review of the literature.
J Am Acad Dermatol. 1998 Nov;39(5 Pt 1):721-36. doi: 10.1016/s0190-9622(98)70044-1.
10
Effective high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation in a patient with the aggressive form of cytophagic histiocytic panniculitis.一名侵袭性噬血细胞性脂膜炎患者接受有效大剂量化疗后进行自体外周血干细胞移植。
Bone Marrow Transplant. 1997 Jul;20(2):171-3. doi: 10.1038/sj.bmt.1700858.