PW02-011 - Favorable response to anakinra in aisle patients

Excerpt

We previously described a new autosomal recessively inherited autoinflammatory syndrome in two Turkish patients, who were second-degree cousins. Their clinical features included recurrent inflammatory attacks lasting 3-10 days since the first year of life, which are characterized by fever, erythematous or urticarial rash with hyperesthesia, serositis and edema on the face and extremities. Both patients eventually developed a lymphedema symmetrically affecting lower extremities and genitalia. Using a homozygosity mapping approach and targeted capture array based sequencing, we identified a homozygous insertion mutation in the exon 3 of the MyoD family inhibitor domain containing gene (MDFIC), causing a frameshift and inhibiting the translation of its functional cysteine-rich C-terminal domain. We herein report another patient of Italian origin and also their response to anakinra treatment. …