A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing-Reference-Cited by-同舟云学术

A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing

Published:2020-02 Issue:1 Volume:53 Page:99-105
ISSN:1684-1182
Container-title:Journal of Microbiology, Immunology and Infection
language:en
Short-container-title:Journal of Microbiology, Immunology and Infection

Author:

Liao Cheng-Yu,Yu Hui-Wen,Cheng Chao-Neng,Chen Jiann-Shiuh,Lin Ching-Wei,Chen Peng-Chieh^ORCID,Shieh Chi-Chang

Publisher

Elsevier BV

Subject

Infectious Diseases,Microbiology (medical),General Immunology and Microbiology,General Medicine,Immunology and Allergy

Reference34 articles.

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2. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation;Puck;J Allergy Clin Immunol,2007

3. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution;Buckley;Annu Rev Immunol,2004

4. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency;Lipstein;Pediatrics,2010

5. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency;Al-Herz;Front Immunol,2014

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1. A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report;BMC Medical Genomics;2023-12-11

3. Postnatal corticosteroid treatment as a risk factor for false positivity in severe combined immunodeficiency newborn screening;Journal of Microbiology, Immunology and Infection;2023-08

4. IL-7: Comprehensive review;Cytokine;2022-12

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