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Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

作者信息

Biggs Catherine M, Kostjukovits Svetlana, Dobbs Kerry, Laakso Saila, Klemetti Paula, Valta Helena, Taskinen Mervi, Mäkitie Outi, Notarangelo Luigi D

机构信息

Division of Immunology, Boston Children's Hospital, Boston, MA, 02115, USA.

Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.

出版信息

J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19.

DOI:10.1007/s10875-017-0408-4
PMID:28631025
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6104642/
Abstract
摘要

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本文引用的文献

1
Decreased telomere length in children with cartilage-hair hypoplasia.软骨毛发发育不全患儿的端粒长度缩短。
J Med Genet. 2017 May;54(5):365-370. doi: 10.1136/jmedgenet-2016-104279. Epub 2016 Dec 16.
2
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.针对RAG缺陷中自身抗原和细胞因子的广谱抗体。
J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.
3
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.威斯科特-奥尔德里奇综合征和X连锁血小板减少症患者体内的广谱自身抗体。
J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26.
4
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.自身免疫性多内分泌腺病念珠菌病外胚层营养不良：综合征的已知和新方面。
Ann N Y Acad Sci. 2011 Dec;1246:77-91. doi: 10.1111/j.1749-6632.2011.06308.x.
5
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.患软骨-毛发发育不全症患者的胸腺输出减少、细胞周期异常以及 T 淋巴细胞凋亡增加。
J Allergy Clin Immunol. 2011 Jul;128(1):139-146. doi: 10.1016/j.jaci.2011.03.042. Epub 2011 May 13.
6
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.造血干细胞移植后软骨毛发发育不全患者的临床和免疫学结局。
Blood. 2010 Jul 8;116(1):27-35. doi: 10.1182/blood-2010-01-259168. Epub 2010 Apr 7.
7
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.人类T细胞发育的早期缺陷严重影响胸腺基质细胞的分布和成熟：对奥门综合征病理生理学的可能影响。
Blood. 2009 Jul 2;114(1):105-8. doi: 10.1182/blood-2009-03-211029. Epub 2009 May 4.
8
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.25例携带RMRP 70 A→G软骨毛发发育不全的阿米什患者的免疫和临床特征
Clin Immunol. 2009 Apr;131(1):119-28. doi: 10.1016/j.clim.2008.11.001. Epub 2009 Jan 16.
9
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.软骨毛发发育不全——108例芬兰患者的临床表现
Eur J Pediatr. 1993 Mar;152(3):211-7. doi: 10.1007/BF01956147.