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  1. Successful use of ofatumumab in two cases of early-onset juvenile SLE with...

    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).

  2. Monogenic vasculitis of the young

    Vasculitis is characterized by inflammation of the blood vessel wall, which can lead to vascular occlusion, ischaemia, and end-organ injury. The exact causes of most of the primary systemic vasculitides (PSV) are not fully understood; a monogenic

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