Letter to the editorVariable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings
References (5)
- et al.
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Nature
(2014) - et al.
Pneumococcal serotype-specific antibodies persist through early childhood after infant immunization: Follow-up from a randomized controlled trial
PLoS One
(2014)
Cited by (13)
When to suspect inborn errors of immunity in Epstein–Barr virus–related lymphoproliferative disorders
2023, Clinical Microbiology and InfectionCitation Excerpt :To a much lesser extent, EBV-driven lymphoproliferation has been reported in ORAI1, NFkB1, and GATA-2 deficiencies [8]. Within this group, EBV-driven lymphoproliferation is highest among CTPS1 and RASGRP1 deficiencies, with up to 70% of patients having at least one episode of lymphoproliferation [52,53]. CTPS1 deficiency was initially described in eight patients from Northwest England in 2014; CTPS1 deficiency results from a defect in CTP synthase 1, which leads to an impaired de novo DNA synthesis affecting T-cell and B-cell function [54].
EBV susceptibility
2020, Stiehm's Immune Deficiencies: Inborn Errors of ImmunityAdvances in basic and clinical immunology in 2016
2017, Journal of Allergy and Clinical ImmunologyCitation Excerpt :CTP synthase 1 (CTP1) deficiency has been known to result in early-onset severe chronic viral infections, recurrent encapsulated bacterial infections, and EBV-related B-cell non-Hodgkin lymphoma. Trück et al68 have expanded this phenotype in their report of 2 siblings with CTP1 mutations resulting in recurrent respiratory tract infections, chronic diarrhea, and eczema. Only 1 sibling had evidence of EBV infection.
Genetic susceptibility to EBV infection: insights from inborn errors of immunity
2020, Human Genetics
This work was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre Oxford with funding from the Department of Health's NIHR Biomedical Research Centres funding scheme.
Disclosure of potential conflict of interest: D. F. Kelly has received grants from the Biotechnology and Biological Sciences Research Council and GlaxoSmithKline and has received travel support from GlaxoSmithKline and Sanofi-Pasteur. S. Y. Patel has received grants from the Wellcome Trust and has received payment for lectures from Biotest and Activis. The rest of the authors declare that they have no relevant conflicts of interest.