Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings-Reference-Cited by-同舟云学术

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Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

Published:2016-12 Issue:6 Volume:138 Page:1722-1725.e6
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Trück Johannes,Kelly Dominic F.,Taylor John M.,Kienzler Anne Kathrin,Lester Tracy,Seller Anneke,Pollard Andrew J.,Patel Smita Y.

Funder

National Institute for Health Research

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference13 articles.

1. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation;Martin;Nature,2014

2. Pneumococcal serotype-specific antibodies persist through early childhood after infant immunization: Follow-up from a randomized controlled trial;Trück;PLoS One,2014

3. The immunology of Epstein-Barr virus-induced disease;Taylor;Annu Rev Immunol,2015

4. Practice parameter for the diagnosis and management of primary immunodeficiency;Bonilla;J Allergy Clin Immunol,2015

5. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies;Casanova;J Exp Med,2014

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1. Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies;Clinical Immunology;2024-03

2. When to suspect inborn errors of immunity in Epstein–Barr virus–related lymphoproliferative disorders;Clinical Microbiology and Infection;2023-04

3. Immunodeficiency, Leukemia, and Lymphoma;Interdisciplinary Cancer Research;2022

4. Epstein–Barr Virus in Inborn Immunodeficiency—More Than Infection;Cancers;2021-09-23

5. Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation;JCI Insight;2020-03-12

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