一名重症联合免疫缺陷患者中已知CD3E突变的双等位基因形式。 - Suppr

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Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency.

作者信息

Erman Baran, Fırtına Sinem, Fışgın Tunc, Bozkurt Ceyhun, Çipe Funda Erol

机构信息

Department of Molecular Biology and Genetics, Istinye University, Istanbul, Turkey.

Institute of Child Health, Hacettepe University, Ankara, Turkey.

出版信息

J Clin Immunol. 2020 Apr;40(3):539-542. doi: 10.1007/s10875-020-00752-3. Epub 2020 Feb 4.

DOI:10.1007/s10875-020-00752-3

PMID:32016651

Abstract

摘要

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Clinical Features and HSCT Outcome for SCID in Turkey.

J Clin Immunol. 2019 Apr;39(3):316-323. doi: 10.1007/s10875-019-00610-x. Epub 2019 Mar 28.

Selected signalling proteins recruited to the T-cell receptor-CD3 complex.

Immunology. 2018 Jan;153(1):42-50. doi: 10.1111/imm.12809. Epub 2017 Sep 5.

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Immunogenetics. 2017 Oct;69(10):653-659. doi: 10.1007/s00251-017-1005-7. Epub 2017 Jun 9.

Severe combined immunodeficiencies and related disorders.

Nat Rev Dis Primers. 2015 Oct 29;1:15061. doi: 10.1038/nrdp.2015.61.

Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later.

Klin Padiatr. 2014 May;226(3):149-53. doi: 10.1055/s-0033-1361142. Epub 2014 Feb 10.

B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?

J Allergy Clin Immunol. 2013 Apr;131(4):994-1000. doi: 10.1016/j.jaci.2013.01.047. Epub 2013 Mar 5.

Long-term follow-up of children conditioned with Treosulfan: German and Austrian experience.

Bone Marrow Transplant. 2013 Apr;48(4):491-501. doi: 10.1038/bmt.2012.188. Epub 2012 Oct 22.

Organization of proximal signal initiation at the TCR:CD3 complex.

Immunol Rev. 2009 Nov;232(1):7-21. doi: 10.1111/j.1600-065X.2009.00843.x.

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J Clin Invest. 2004 Nov;114(10):1512-7. doi: 10.1172/JCI22588.

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.

Nat Genet. 1993 Jan;3(1):77-81. doi: 10.1038/ng0193-77.

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