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

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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Bibliographic Details
Main Authors: Heiko Sic, Matthaios Speletas, Vanessa Cornacchione, Maximillian Seidl, Martin Beibel, Bolan Linghu, Fan Yang, Eirini Sevdali, Anastasios E. Germenis, Edward J. Oakeley, Eric Vangrevelinghe, Andreas W. Sailer, Elisabetta Traggiai, Hermann Gram, Hermann Eibel
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-12-01
Series:Frontiers in Immunology
Subjects:
cytotoxic T lymphocyte antigen-4
janus kinase-3
haploinsufficiency
immune dysregulation syndrome
T regulatory cell
T follicular helper cell
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2017.01824/full

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01824/full

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