An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome

Heterozygous mutations in the cytotoxic T lymphocyte antigen-4 (CTLA-4) are associated with lymphadenopathy, autoimmunity, immune dysregulation, and hypogammaglobulinemia in about 70% of the carriers. So far, the incomplete penetrance of CTLA-4 haploinsufficiency has been attributed to unknown genet...

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Detalles Bibliográficos
Autores principales: Sic, Heiko, Speletas, Matthaios, Cornacchione, Vanessa, Seidl, Maximillian, Beibel, Martin, Linghu, Bolan, Yang, Fan, Sevdali, Eirini, Germenis, Anastasios E., Oakeley, Edward J., Vangrevelinghe, Eric, Sailer, Andreas W., Traggiai, Elisabetta, Gram, Hermann, Eibel, Hermann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770691/
https://www.ncbi.nlm.nih.gov/pubmed/29375547
http://dx.doi.org/10.3389/fimmu.2017.01824

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