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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

Abstract 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...

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Autori principali: Linda Lei, Sabina Muhammad, Muthana Al-Obaidi, Neil Sebire, Iek Leng Cheng, Despina Eleftheriou, Paul Brogan
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2018-09-01
Serie:Pediatric Rheumatology Online Journal
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Accesso online:http://link.springer.com/article/10.1186/s12969-018-0278-1
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