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Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ
BACKGROUND: We previously described an endogamous Pakistani kindred in whom we identified a novel homozygous missense mutation in the PRKCD gene encoding for protein kinase C δ (PKCδ) as a cause of monogenic systemic lupus erythematosus (SLE). PKCδ has a role in the negative regulation of B cells. G...
Autores principales: | Lei, Linda, Muhammad, Sabina, Al-Obaidi, Muthana, Sebire, Neil, Cheng, Iek Leng, Eleftheriou, Despina, Brogan, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158832/ https://www.ncbi.nlm.nih.gov/pubmed/30257684 http://dx.doi.org/10.1186/s12969-018-0278-1 |
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