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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).

    http://iris.ucl.ac.uk/iris/publication/1590282/1

  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

    http://iris.ucl.ac.uk/iris/publication/1211982/1

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