A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey-Reference-Cited by-同舟云学术

A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey

Published:2017-06-09 Issue:10 Volume:69 Page:653-659
ISSN:0093-7711
Container-title:Immunogenetics
language:en
Short-container-title:Immunogenetics

Author:

Firtina Sinem,Ng Yuk Yin,Ng Ozden Hatirnaz,Nepesov Serdar,Yesilbas Osman,Kilercik Meltem,Burtecene Nihan,Cinar Suzan,Camcioglu Yildiz,Ozbek Ugur,Sayitoglu Muge^ORCID

Funder

Türkiye Bilimsel ve Teknolojik Araştirma Kurumu

Bilimsel Araştirma Projeleri Birimi, Istanbul Üniversitesi

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Immunology

Link

http://link.springer.com/article/10.1007/s00251-017-1005-7/fulltext.html

Reference36 articles.

1. Al-Mousa H et al (2016) Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol 137:1780–1787. doi: 10.1016/j.jaci.2015.12.1310

2. Bonilla FA et al (2015) Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 136(1186–1205):e1181–e1178. doi: 10.1016/j.jaci.2015.04.049

3. Chiarini M, Zanotti C, Serana F, Sottini A, Bertoli D, Caimi L, Imberti L (2013) T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges. J Public Health Res 2:9–16. doi: 10.4081/jphr.2013.e3

4. Conley ME, Notarangelo LD, Etzioni A (1999) Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93:190–197. doi: 10.1006/clim.1999.4799

5. Dadi HK, Simon AJ, Roifman CM (2003) Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J med 349:1821–1828. doi: 10.1056/NEJMoa031178

Cited by 12 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. The role of genetic factors in familial case of acne;Bulletin of Russian State Medical University;2022-05

2. High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals;Frontiers in Immunology;2021-07-16

3. Identification of immune-infiltrating cell-related biomarkers in hepatocellular carcinoma based on gene co-expression network analysis;Diagnostic Pathology;2021-07-04

4. Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy;Frontiers in Immunology;2021-05-03

5. Exploration of a Robust and Prognostic Immune Related Gene Signature for Cervical Squamous Cell Carcinoma;Frontiers in Molecular Biosciences;2021-03-03