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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Veröffentlicht in:Front Immunol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Immunology
Online Zugang: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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