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| Content Provider | Springer Nature Link |
|---|---|
| Author | Salzer, Elisabeth Santos Valente, Elisangela Keller, Bärbel Warnatz, Klaus Boztug, Kaan |
| Copyright Year | 2016 |
| Abstract | Human autoimmune disorders present in various forms and are associated with a life-long burden of high morbidity and mortality. Many different circumstances lead to the loss of immune tolerance and often the origin is suspected to be multifactorial. Recently, patients with autosomal recessive mutations in PRKCD encoding protein kinase c delta (PKCδ) have been identified, representing a monogenic prototype for one of the most prominent forms of humoral systemic autoimmune diseases, systemic lupus erythematosus (SLE). PKCδ is a signaling kinase with multiple downstream target proteins and with functions in various signaling pathways. Interestingly, mouse models have indicated a special role of the ubiquitously expressed protein in the control of B-cell tolerance revealed by the severe autoimmunity in Prkcd $^{−/−}$ knockout mice as the major phenotype. As such, the study of PKCδ deficiency in humans has tremendous potential in enhancing our knowledge on the mechanisms of B-cell tolerance. |
| Starting Page | 631 |
| Ending Page | 640 |
| Page Count | 10 |
| File Format | |
| ISSN | 02719142 |
| Journal | Journal of Clinical Immunology |
| Volume Number | 36 |
| Issue Number | 7 |
| e-ISSN | 15732592 |
| Language | English |
| Publisher | Springer US |
| Publisher Date | 2016-08-19 |
| Publisher Place | New York |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | PRKCD systemic lupus erythematosus autoimmunity immunodeficiency Immunology Infectious Diseases Internal Medicine Medical Microbiology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Immunology and Allergy Immunology |
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