Lawless, D orcid.org/0000-0001-8496-3725, Mistry, A, Wood, PM et al. (7 more authors) (2017) Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy. Journal of Clinical Immunology, 37 (7). pp. 617-622. ISSN 0271-9142
Abstract
TTC7A deficiency typically causes severe gastrointestinal manifestations such as multiple intestinal atresia or early-onset inflammatory bowel disease. In some cases, this is associated with severe combined immunodeficiency. Partial loss-of-function mutations appear to be associated with a milder phenotype resulting in common variable immunodeficiency-like condition with enteropathy.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © Springer Science+Business Media, LLC 2017. This is an author produced version of a paper published in Journal of Clinical Immunology. Uploaded in accordance with the publisher's self-archiving policy. |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Translational Medicine (Leeds) The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 20 Dec 2017 16:36 |
Last Modified: | 04 Mar 2019 09:43 |
Status: | Published |
Publisher: | Springer Nature |
Identification Number: | 10.1007/s10875-017-0427-1 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:125436 |