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Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.

作者信息

Kostjukovits Svetlana, Klemetti Paula, Valta Helena, Martelius Timi, Notarangelo Luigi D, Seppänen Mikko, Taskinen Mervi, Mäkitie Outi

机构信息

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Department of Pediatrics, Malmi District Hospital, Pietarsaari, Finland.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

出版信息

J Allergy Clin Immunol. 2017 Aug;140(2):612-614.e5. doi: 10.1016/j.jaci.2017.02.016. Epub 2017 Mar 9.

DOI:10.1016/j.jaci.2017.02.016
PMID:28284971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5547008/
Abstract
摘要

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本文引用的文献

1
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.与 RMRP 基因突变相关的严重免疫缺陷的可变表型。
J Clin Immunol. 2015 Feb;35(2):147-57. doi: 10.1007/s10875-015-0135-7. Epub 2015 Feb 8.
2
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.B 细胞复制历史和体细胞超突变状态可识别普通变异性免疫缺陷中的不同病理生理背景。
Blood. 2011 Dec 22;118(26):6814-23. doi: 10.1182/blood-2011-06-361881. Epub 2011 Oct 31.
3
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.
4
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.
5
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.
6
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.RMRP功能损害的类型和程度可预测软骨毛发发育不全-发育不全谱系中的表型。
Am J Hum Genet. 2007 Sep;81(3):519-29. doi: 10.1086/521034. Epub 2007 Aug 6.
7
Bone marrow transplantation for cartilage-hair-hypoplasia.用于软骨毛发发育不全的骨髓移植。
Bone Marrow Transplant. 2006 Dec;38(11):751-6. doi: 10.1038/sj.bmt.1705520. Epub 2006 Oct 16.
8
Increased mortality in cartilage-hair hypoplasia.软骨毛发发育不全患者死亡率增加。
Arch Dis Child. 2001 Jan;84(1):65-67. doi: 10.1136/adc.84.1.65.
9
An infant with both autoimmune neutropenia and idiopathic thrombocytopenia with IgG2/IgA deficiency.一名患有自身免疫性中性粒细胞减少症和特发性血小板减少症且伴有IgG2/IgA缺乏的婴儿。
Int J Hematol. 1993 Jan;57(1):27-30.