Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia. In this manuscript, we repo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Immunol
Prif Awduron: El-Daher, Marie-Thérèse, Lemale, Julie, Bruneau, Julie, Leveau, Claire, Guerin, Frédéric, Lambert, Nathalie, Diana, Jean-Sébastien, Neven, Bénédicte, Sepulveda, Fernando E., Coulomb-L'Hermine, Aurore, Molina, Thierry, Picard, Capucine, Fischer, Alain, de Saint Basile, Geneviève
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2019
Pynciau:
Immunology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6853864/
https://ncbi.nlm.nih.gov/pubmed/31787977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2019.02592
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