由于T细胞中遗传缺陷可能发生自发逆转导致的非典型X连锁严重联合免疫缺陷。 - Suppr

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

作者信息

Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, Müller-Fleckenstein I, Horneff G, Schroten H, Fischer A, de Saint Basile G

机构信息

Universitätskinderklinik, Heinrich-Heine Universität, Düsseldorf, Germany.

出版信息

N Engl J Med. 1996 Nov 21;335(21):1563-7. doi: 10.1056/NEJM199611213352104.

DOI:10.1056/NEJM199611213352104

PMID:8900089

Abstract

摘要

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Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.由于T细胞中遗传缺陷可能发生自发逆转导致的非典型X连锁严重联合免疫缺陷。

N Engl J Med. 1996 Nov 21;335(21):1563-7. doi: 10.1056/NEJM199611213352104.

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.通过体外基因疗法对X连锁重症联合免疫缺陷进行持续矫正。

N Engl J Med. 2002 Apr 18;346(16):1185-93. doi: 10.1056/NEJMoa012616.

A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype.常见γ链（γc）基因IL2RG中的一种新型剪接位点突变导致具有非典型NK+表型的X连锁重症联合免疫缺陷。

Hum Mutat. 2004 May;23(5):522-3. doi: 10.1002/humu.9235.

Intrinsic defects of B cell function in X-linked severe combined immunodeficiency.X连锁重症联合免疫缺陷中B细胞功能的内在缺陷

Eur J Immunol. 2000 Mar;30(3):732-7. doi: 10.1002/1521-4141(200003)30:3<732::AID-IMMU732>3.0.CO;2-L.

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.女性生殖系嵌合体是导致X连锁重症联合免疫缺陷的一种独特的白细胞介素-2受体γ链突变的起源。

J Clin Invest. 1995 Feb;95(2):895-9. doi: 10.1172/JCI117740.

Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.在X连锁严重联合免疫缺陷小鼠模型中，比较五种含有人类白细胞介素-2受体γ链基因的逆转录病毒载体恢复T和B淋巴细胞的能力。

Mol Ther. 2001 Apr;3(4):565-73. doi: 10.1006/mthe.2001.0292.

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.在人类X连锁重症联合免疫缺陷中高效检测37种新的IL2RG突变。

Clin Immunol. 2000 Apr;95(1 Pt 1):33-8. doi: 10.1006/clim.2000.4846.

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.一名患有重症联合免疫缺陷病儿童的酪氨酸磷酸酶CD45基因突变

Nat Med. 2000 Mar;6(3):343-5. doi: 10.1038/73208.

Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses.严重联合免疫缺陷的家畜模型：犬X连锁严重联合免疫缺陷和马的严重联合免疫缺陷

Immunodefic Rev. 1992;3(4):277-303.

Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease.X连锁重症联合免疫缺陷病患儿胸腺细胞中TCR Vβ基因重排停滞。

J Immunol. 1994 Jul 1;153(1):442-8.

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Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

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