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Combined Immunodeficiency with Ring Chromosome 21.

作者信息

Norman Melissa, Wainstein Brynn, Anazodo Antoinette, Turner Anne, Ma Cindy, Payne Kathryn, Tangye Stuart G, Gray Paul

机构信息

Department of Immunology, Sydney Children's Hospital, Sydney, NSW, 2031, Australia.

University of New South Wales, Sydney, NSW, 2052, Australia.

出版信息

J Clin Immunol. 2018 Apr;38(3):251-256. doi: 10.1007/s10875-018-0493-z. Epub 2018 Apr 15.

DOI:10.1007/s10875-018-0493-z
PMID:29656336
Abstract
摘要

相似文献

1
Combined Immunodeficiency with Ring Chromosome 21.
J Clin Immunol. 2018 Apr;38(3):251-256. doi: 10.1007/s10875-018-0493-z. Epub 2018 Apr 15.
2
[Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome].21号环状染色体综合征核型的细胞遗传学分析及表型定位分析
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):682-3.
3
Molecular and clinical characterization of patients with a ring chromosome 11.11号环状染色体患者的分子与临床特征
Eur J Med Genet. 2012 Dec;55(12):708-14. doi: 10.1016/j.ejmg.2012.08.004. Epub 2012 Aug 23.
4
Dilated ascending aorta in a child with ring chromosome 21 syndrome.一名患有21号环状染色体综合征儿童的升主动脉扩张
Am J Med Genet A. 2004 Oct 1;130A(2):191-5. doi: 10.1002/ajmg.a.30143.
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[Analysis of a infertile female with ring 21 chromosome using combined techniques].[运用联合技术对一名21号环状染色体不孕女性的分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):761-4. doi: 10.3760/cma.j.issn.1003-9406.2014.06.018.
6
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.11q末端缺失与联合免疫缺陷（雅各布森综合征）：雅各布森综合征免疫缺陷的病例报告及文献综述
Am J Med Genet A. 2016 Dec;170(12):3237-3240. doi: 10.1002/ajmg.a.37859. Epub 2016 Sep 8.
7
[Ring chromosome 17 and recurring pneumopathy].[17号环状染色体与复发性肺病]
An Esp Pediatr. 1989 Nov;31(5):478-80.
8
Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.源自19q的间质性缺失和环状染色体。近端19q三体综合征表型。
Ann Genet. 1992;35(4):241-4.
9
[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].[ICF综合征。免疫缺陷、染色体着丝粒不稳定、面部异常。病例报告及文献综述]
Monatsschr Kinderheilkd. 1992 Feb;140(2):91-4.
10
Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.
Am J Med Genet. 2002 Jul 15;110(4):332-7. doi: 10.1002/ajmg.10466.

引用本文的文献

1
[Ring chromosome 21 syndrome: report of 2 cases].[21号环状染色体综合征：2例报告]
Rev Med Inst Mex Seguro Soc. 2025 Jan 3;63(1):e6352. doi: 10.5281/zenodo.13381482.
2
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.为避免不必要的诊断、漏诊及医疗并发症，每位内科内分泌科医生应了解的罕见遗传综合征知识：“罕见遗传综合征的内科治疗”五年回顾
J Clin Med. 2021 Nov 22;10(22):5457. doi: 10.3390/jcm10225457.

本文引用的文献

1
The ExAC browser: displaying reference data information from over 60 000 exomes.ExAC浏览器：展示来自6万多个外显子组的参考数据信息。
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971. Epub 2016 Nov 28.
2
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
3
Combined immunodeficiency in a patient with mosaic monosomy 21.一名患有嵌合型21号染色体单体的患者出现联合免疫缺陷。
Immunol Res. 2016 Aug;64(4):841-7. doi: 10.1007/s12026-016-8803-0.
4
[Chromosome 21 ring (r21) and epilepsy].[21号染色体环状（r21）与癫痫]
An Pediatr (Barc). 2004 Apr;60(4):379-81. doi: 10.1016/s1695-4033(04)78290-9.
5
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.ICOS纯合缺失与成人期常见可变免疫缺陷相关。
Nat Immunol. 2003 Mar;4(3):261-8. doi: 10.1038/ni902. Epub 2003 Feb 10.
6
Hypogammaglobulinaemia in a patient with ring chromosome 21.一名患有21号环状染色体的患者出现低丙种球蛋白血症。
Arch Dis Child. 1997 Sep;77(3):252-4. doi: 10.1136/adc.77.3.252.
7
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.由于21号环状染色体导致的表观21号染色体单体性：通过DNA分析揭示亲本来源
J Med Genet. 1988 Dec;25(12):851-4. doi: 10.1136/jmg.25.12.851.