Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans
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.
- National Institute of Allergy and Infectious Diseases United States
- National Institute of Health Pakistan
- National Institutes of Health United States
- National Cancer Institute Malaysia
- University of Illinois at Chicago United States
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
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
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