Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome - 05/02/15

Doi : 10.1016/j.jaci.2014.07.050

Heleen D. de Koning, MD ^a,^b,^d,^e,^{^{∗
These authors contributed equally to this work.}} , Mariëlle E. van Gijn, MD, PhD ^f,^{^{∗
These authors contributed equally to this work.}}, Monique Stoffels, PhD ^b,^e, Johanna Jongekrijg, BSc ^b,^e, Patrick L.J.M. Zeeuwen, PhD ^a,^d,^e, Martin G. Elferink, PhD ^f, Isaac J. Nijman, PhD ^f, Patrick A.M. Jansen, PhD ^a,^d,^e, Kornelia Neveling, PhD ^c,^g, Jos W.M. van der Meer, MD, PhD ^b,^e, Joost Schalkwijk, PhD ^a,^d,^e,^{^{‡
These authors contributed equally to this work.}} , Anna Simon, MD, PhD ^b,^d,^e,^{^{‡
These authors contributed equally to this work.}}
^a Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands
^b Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
^c Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
^d Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands
^e Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands
^f Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
^g Institute for Genetic and Metabolic Disease (IGMD), Nijmegen, The Netherlands

Supported by Radboud University Medical Center, Nijmegen, The Netherlands; University Medical Center Utrecht, Utrecht, The Netherlands. H.D.d.K. is supported by an AGIKO stipend from the Netherlands Organization for Health Research and Development, and A.S. is supported by a VIDI grant from the Netherlands Organization for Health Research and Development.

Disclosure of potential conflict of interest: H. D. de Koning has consultant arrangements with SOBI and has received research support from Novartis. J. W. M. van der Meer has consultant arrangements with the DSMB Capita study. J. Schalkwijk has received research support from ZonMW. A. Simon has received research support from the National Dutch Research Organisation ZonMW VIDI, Novartis, and Xoma/Servier; has consultant arrangements with Novartis, SOBI Biovitrum, and Xoma/Servier; and has received payment for lectures from Novartis. The rest of the authors declare that they have no relevant conflicts of interest.

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Vol 135 - N° 2

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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome - 05/02/15

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