A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency-Reference-Cited by-同舟云学术

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency

Published:2006-04-07 Issue:5 Volume:51 Page:495-497
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kellermayer Richard,Hsu Amy P.,Stankovics József,Balogh Péter,Hadzsiev Kinga,Vojcek Ágnes,Maródi László,Kajtár Pál,Kosztolányi György,Puck Jennifer M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200675.pdf

Reference6 articles.

1. Buckley RH (2004) Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625–655

2. Chan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 115:391–398

3. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215

4. Muller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W (2001) Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 98:1847–1851

5. Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP (2000) Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 95:33–38

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exhaustion‑like dysfunction of T and NKT cells in an X‑linked severe combined immunodeficiency patient with maternal engraftment by single‑cell analysis;International Journal of Molecular Medicine;2023-02-06

2. Somatic genetic rescue in Mendelian haematopoietic diseases;Nature Reviews Genetics;2019-06-11

3. Molekuláris genetikai vizsgálatok primer immundefektusokban;Orvosi Hetilap;2018-12

4. Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter;Journal of Allergy and Clinical Immunology;2016-03

5. T-cell receptor excision circles and repertoire diversity in children with profound T-cell immunodeficiency;Journal of Microbiology, Immunology and Infection;2013-10