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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2020

01-01-2020 | Crohn's Disease | Letter to Editor

TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients

Authors: James J. Ashton, Enrico Mossotto, R. Mark Beattie, Sarah Ennis

Published in: Journal of Clinical Immunology | Issue 1/2020

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Excerpt

To the Editor, …
Appendix
Available only for authorised users
Literature
1.
2.
Lawless D, Mistry A, Wood PM, Stahlschmidt J, Arumugakani G, Hull M, et al. Bialellic mutations in tetratricopeptide repeat domain 7A (TTC7A) cause common variable immunodeficiency-like phenotype with enteropathy. J Clin Immunol. 2017 [cited 2018 Dec 19];37(7):617–22. Available from: http://​www.​ncbi.​nlm.​nih.​gov/​pubmed/​28808844.
3.
4.
Ashton JJ, Andreoletti G, Coelho T, Haggarty R, Batra A, Afzal NA, et al. Identification of variants in genes associated with single-gene inflammatory bowel disease by whole-exome sequencing. Inflamm Bowel Dis. 2016 [cited 2018 Mar 8];22(10):2317–27. Available from: http://​www.​ncbi.​nlm.​nih.​gov/​pubmed/​27537055.
5.
6.
Saunders JR, Lehman A, Turvey SE, Pan J, Rajcan-Separovic E, Muise AM, et al. Novel exonic deletions in TTC7A in a newborn with multiple intestinal atresia and combined immunodeficiency. J Clin Immunol. 2019 [cited 2019 Sep 17];39(6):616–9. Available from: http://​www.​ncbi.​nlm.​nih.​gov/​pubmed/​31342292.
Metadata
Title
TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients
Authors
James J. Ashton
Enrico Mossotto
R. Mark Beattie
Sarah Ennis
Publication date
01-01-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00726-0

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