Article
CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.
Frontiers in immunology - 1 Jan 2020
Bruzzaniti Sara, Cirillo Emilia, Prencipe Rosaria, Giardino Giuliana, Lepore Maria Teresa, Garziano Federica, Perna Francesco, Procaccini Claudio, Mascolo Luigi, Pagano Cristina, Fattorusso Valentina, Mozzillo Enza, Bifulco Maurizio, Matarese Giuseppe, Franzese Adriana, Pignata Claudio, Galgani Mario
Abstract excerpt
Mulibrey (muscle-liver-brain-eye) syndrome (MUL) is an autosomal recessive disorder caused by mutations in the TRIpartite motif (TRIM)37 gene, encoding for TRIM37 a member of the TRIM E3 ubiquitin ligase protein family. MUL patients are characterized by growth retardation, dysmorphic features, and a wide range of abnormalities affecting different organs. However, T-cell abnormalities have not been observed in MUL...
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