Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants

Abstract Background CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facial dysmorphisms, cardiovascular malformations and an increased risk of c...

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Main Authors: Francesco Baccelli, Davide Leardini, Edoardo Muratore, Daria Messelodi, Salvatore Nicola Bertuccio, Maria Chiriaco, Caterina Cancrini, Francesca Conti, Fausto Castagnetti, Lucia Pedace, Andrea Pession, Ayami Yoshimi, Charlotte Niemeyer, Marco Tartaglia, Franco Locatelli, Riccardo Masetti
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Human Genomics
Subjects:
CBL
JMML
Immune dysregulation
CBL syndrome
SH2B3
Online Access:https://doi.org/10.1186/s40246-022-00414-y

Internet

https://doi.org/10.1186/s40246-022-00414-y

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