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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6853864/
https://www.ncbi.nlm.nih.gov/pubmed/31787977
http://dx.doi.org/10.3389/fimmu.2019.02592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6853864/
https://www.ncbi.nlm.nih.gov/pubmed/31787977
http://dx.doi.org/10.3389/fimmu.2019.02592

Ejemplares similares