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Blood
Article
Data sources: UnpayWall
Blood
Article . 2013 . Peer-reviewed
Data sources: Crossref
Blood
Article . 2013
versions View all 2 versions

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Authors: Hye Sun, Kuehn; Julie E, Niemela; Andreia, Rangel-Santos; Mingchang, Zhang; Stefania, Pittaluga; Jennifer L, Stoddard; Ashleigh A, Hussey; +7 Authors

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Abstract

Key PointsMutations in PRKCD cause a syndrome characterized by chronic benign lymphadenopathy, positive autoantibodies, and NK dysfunction. PRKCD deficiency disrupts control of B-cell proliferation and apoptosis and affects NK-cell cytolytic activity.

Keywords

Male, B-Lymphocytes, Epstein-Barr Virus Infections, Herpesvirus 4, Human, Autoimmune Lymphoproliferative Syndrome, Homozygote, Gene Expression, Apoptosis, Cell Line, Killer Cells, Natural, Mice, Gene Knockdown Techniques, Mutation, Animals, Cytokines, Humans, Lymph Nodes, Child, Lymphatic Diseases, Cell Proliferation

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    131
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 1%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 1%
Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
131
Top 1%
Top 10%
Top 1%
bronze