Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ

• Main Authors: Linda Lei (Author), Sabina Muhammad (Author), Muthana Al-Obaidi (Author), Neil Sebire (Author), Iek Leng Cheng (Author), Despina Eleftheriou (Author), Paul Brogan (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...