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Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations
  1. I Touitou1,
  2. C Perez2,
  3. B Dumont1,
  4. L Federici1,
  5. C Jorgensen2
  1. 1Unité médicale des maladies autoinflammatories, Laboratoire de génétique, Hôpital A de Villeneuve, CHU de Montpellier, Montpellier, France
  2. 2Unité clinique d’immunorhumatologie, Hôpital Lapeyronie, CHU de Montpellier, Montpellier, France
  1. Correspondence to:
    I Touitou
    Unité médicale des molodies autoinflammatories, Laboratoire de génétique, Hôpital A de Villeneuve, CHU de Montpellier, 34295 Montpellier, Cedex 5, France;isabelle.touitou{at}igh.cnrs.fr

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Two dominant periodic fevers, tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS), are prominent auto-inflammatory disorders. Mutations in the 55 kDa TNF receptor superfamily 1A gene (TNFRSF1A) and in the cold-induced auto-inflammatory syndrome 1 gene (CIAS1) were recently associated with TRAPS1 and CAPS,2 respectively. Following publications describing the efficacy of etanercept (enbrel), a recombinant human TNF receptor 1B fusion protein in patients with TRAPS3 and anakinra (kineret), a recombinant human interleukin-1 (IL1)-receptor antagonist, in patients with CAPS,4 targeted biotherapies have been repeatedly and successfully given for these two conditions.

Our proband (fig 1) is a 36-year-old French woman who presented with rashes of urticaria and oedema precipitated by exposure to heat and water. These rashes, lasting a …

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