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11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.

作者信息

Schulert Grant S, Bove Kevin, McMasters Richard, Campbell Kathleen, Leslie Nancy, Grom Alexei A

机构信息

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

出版信息

Arthritis Care Res (Hoboken). 2015 Aug;67(8):1173-9. doi: 10.1002/acr.22527.

DOI:10.1002/acr.22527
PMID:25469482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4452461/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15f3/4452461/5754b0e9cd8c/nihms669000f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15f3/4452461/5754b0e9cd8c/nihms669000f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15f3/4452461/5754b0e9cd8c/nihms669000f1a.jpg

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2
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.全外显子组测序揭示了系统性幼年特发性关节炎中巨噬细胞活化综合征与家族性噬血细胞性淋巴组织细胞增多症之间的重叠。
Arthritis Rheumatol. 2014 Dec;66(12):3486-95. doi: 10.1002/art.38793.
3
Macrophage activation syndrome and cytokine-directed therapies.
阿那白滞素治疗巨噬细胞活化综合征：单中心经验和文献系统评价。
Clin Rheumatol. 2018 Dec;37(12):3329-3335. doi: 10.1007/s10067-018-4095-1. Epub 2018 Apr 16.
4
Convergent pathways of the hyperferritinemic syndromes.hyperferritinemic 综合征的汇聚途径。
Int Immunol. 2018 Apr 25;30(5):195-203. doi: 10.1093/intimm/dxy012.
5
Mevalonate kinase deficiency: current perspectives.甲羟戊酸激酶缺乏症：当前观点
Appl Clin Genet. 2016 Jul 20;9:101-10. doi: 10.2147/TACG.S93933. eCollection 2016.
6
Natural history of mevalonate kinase deficiency: a literature review.甲羟戊酸激酶缺乏症的自然病史：文献综述
Pediatr Rheumatol Online J. 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7.
7
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J Infect Dis. 2016 Apr 1;213(7):1180-8. doi: 10.1093/infdis/jiv550. Epub 2015 Nov 23.
8
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