一种表现为非典型T(-)B(+)NK+表型的新型IL2RG突变：NK细胞起源的快速阐明 - Suppr

Suppr

超能文献

A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin.

作者信息

Estévez Orlando A, Ortega Consuelo, Fernández Silvia, Aguado Rocio, Rumbao José, Perez-Navero Juan, Santamaría Manuel

机构信息

Clinical Immunology Unit, Hospital Universitario Reina Sofia, Córdoba, Spain.

出版信息

Pediatr Blood Cancer. 2014 Jan;61(1):178-9. doi: 10.1002/pbc.24717. Epub 2013 Aug 12.

DOI:10.1002/pbc.24717

PMID:23940110

Abstract

摘要

相似文献

A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin.

Pediatr Blood Cancer. 2014 Jan;61(1):178-9. doi: 10.1002/pbc.24717. Epub 2013 Aug 12.

A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).

Immunogenetics. 2015 Nov;67(11-12):629-39. doi: 10.1007/s00251-015-0871-0. Epub 2015 Sep 26.

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

J Pediatr Hematol Oncol. 2019 May;41(4):328-333. doi: 10.1097/MPH.0000000000001232.

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.

Int J Hematol. 2019 May;109(5):603-611. doi: 10.1007/s12185-019-02619-9. Epub 2019 Mar 8.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

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.

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

A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.

Immunogenetics. 2017 Jan;69(1):29-38. doi: 10.1007/s00251-016-0949-3. Epub 2016 Aug 26.

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

J Clin Immunol. 2020 Apr;40(3):503-514. doi: 10.1007/s10875-020-00745-2. Epub 2020 Feb 19.

Partial T cell defects and expanded CD56 NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.

J Leukoc Biol. 2020 Aug;108(2):739-748. doi: 10.1002/JLB.5MA0220-239R. Epub 2020 May 11.

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993.

J Immunol. 2008 Nov 1;181(9):5817-27.

引用本文的文献

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.

Cureus. 2024 Dec 17;16(12):e75872. doi: 10.7759/cureus.75872. eCollection 2024 Dec.

A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.

J Med Case Rep. 2023 Jul 18;17(1):307. doi: 10.1186/s13256-023-04049-y.

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

J Clin Immunol. 2020 Apr;40(3):503-514. doi: 10.1007/s10875-020-00745-2. Epub 2020 Feb 19.

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19.

hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature.

Allergy Asthma Clin Immunol. 2019 Jan 5;15:2. doi: 10.1186/s13223-018-0317-y. eCollection 2019.

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Front Immunol. 2017 Jul 12;8:808. doi: 10.3389/fimmu.2017.00808. eCollection 2017.

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验