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

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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Bibliographic Details
Main Authors: Marie-Thérèse El-Daher, Julie Lemale, Julie Bruneau, Claire Leveau, Frédéric Guerin, Nathalie Lambert, Jean-Sébastien Diana, Bénédicte Neven, Fernando E. Sepulveda, Aurore Coulomb-L'Hermine, Thierry Molina, Capucine Picard, Alain Fischer, Geneviève de Saint Basile
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Immunology
Subjects:
tetratricopeptide repeat domain 7A
lymphoproliferative syndrome
intestinal pseudo-obstruction
fsn mouse
mutant's cell phenotype
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02592/full

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https://www.frontiersin.org/article/10.3389/fimmu.2019.02592/full

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