| http://purl.uniprot.org/citations/23319571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23319571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23319571 | http://www.w3.org/2000/01/rdf-schema#comment | "Primary B-cell disorders comprise a heterogeneous group of inherited immunodeficiencies, often associated with autoimmunity causing significant morbidity. The underlying genetic etiology remains elusive in the majority of patients. In this study, we investigated a patient from a consanguineous family suffering from recurrent infections and severe lupuslike autoimmunity. Immunophenotyping revealed progressive decrease of CD19(+) B cells, a defective class switch indicated by low numbers of IgM- and IgG-memory B cells, as well as increased numbers of CD21(low) B cells. Combined homozygosity mapping and exome sequencing identified a biallelic splice-site mutation in protein C kinase δ (PRKCD), causing the absence of the corresponding protein product. Consequently, phosphorylation of myristoylated alanine-rich C kinase substrate was decreased, and mRNA levels of nuclear factor interleukin (IL)-6 and IL-6 were increased. Our study uncovers human PRKCD deficiency as a novel cause of common variable immunodeficiency-like B-cell deficiency with severe autoimmunity."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2012-10-460741"xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2012-10-460741"xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Pollak A."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Pollak A."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Kain R."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Kain R."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Boztug K."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Boztug K."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Pickl W.F."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Pickl W.F."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Salzer E."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Salzer E."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Santos-Valente E."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Santos-Valente E."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Seidel M.G."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Seidel M.G."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Garncarz W."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Garncarz W."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Ban S.A."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Ban S.A."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Prengemann N.K."xsd:string |
| http://purl.uniprot.org/citations/23319571 | http://purl.uniprot.org/core/author | "Prengemann N.K."xsd:string |