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A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome.

作者信息

Uchiyama Toru, Kawakami Saori, Masuda Hiroshi, Yoshida Kazue, Niizeki Hironori, Mochizuki Emi, Edasawa Kaori, Ishiguro Akira, Onodera Masafumi

机构信息

Department of Human Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.

出版信息

J Clin Immunol. 2021 Jan;41(1):233-237. doi: 10.1007/s10875-020-00875-7. Epub 2020 Oct 6.

DOI:10.1007/s10875-020-00875-7
PMID:33025375
Abstract
摘要

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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.CHARGE综合征患者中CHD7基因的突变会导致T细胞+B细胞+自然杀伤细胞+重症联合免疫缺陷,并且可能导致奥门样综合征。
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Clin Case Rep. 2024 Aug 7;12(8):e9295. doi: 10.1002/ccr3.9295. eCollection 2024 Aug.

本文引用的文献

1
CHARGE syndrome: a review of the immunological aspects.CHARGE综合征:免疫方面的综述
Eur J Hum Genet. 2015 Nov;23(11):1451-9. doi: 10.1038/ejhg.2015.7. Epub 2015 Feb 18.
2
Low thymic output, peripheral homeostasis deregulation, and hastened regulatory T cells differentiation in children with 22q11.2 deletion syndrome.22q11.2 缺失综合征患儿的低胸腺输出、外周稳态失调和加速调节性 T 细胞分化。
J Pediatr. 2014 Apr;164(4):882-9. doi: 10.1016/j.jpeds.2013.12.013. Epub 2014 Jan 23.
3
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
在小鼠中,大血管发育需要咽外胚层中Chd7和Tbx1的双等位基因表达。
J Clin Invest. 2009 Nov;119(11):3301-10. doi: 10.1172/JCI37561. Epub 2009 Oct 12.
4
Cutaneous lymphocyte antigen-positive T cells may predict the development of acute GVHD: alterations and differences of CLA+ T- and NK-cell fractions.皮肤淋巴细胞抗原阳性T细胞可能预测急性移植物抗宿主病的发生:CLA+ T细胞和NK细胞亚群的改变与差异
Bone Marrow Transplant. 2009 Jun;43(11):863-73. doi: 10.1038/bmt.2008.392. Epub 2008 Dec 1.
5
Coregulation of CD8+ T cell exhaustion by multiple inhibitory receptors during chronic viral infection.慢性病毒感染期间多种抑制性受体对CD8 + T细胞耗竭的共同调节
Nat Immunol. 2009 Jan;10(1):29-37. doi: 10.1038/ni.1679. Epub 2008 Nov 30.
6
Regulatory T cells are resistant to apoptosis via TCR but not P2X7.调节性T细胞通过TCR对细胞凋亡具有抗性,但对P2X7不具有抗性。
J Immunol. 2007 Mar 15;178(6):3474-82. doi: 10.4049/jimmunol.178.6.3474.